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1.
N Engl J Med ; 389(9): 795-807, 2023 Aug 31.
Artículo en Inglés | MEDLINE | ID: mdl-37646677

RESUMEN

BACKGROUND: Among infants with isolated cleft palate, whether primary surgery at 6 months of age is more beneficial than surgery at 12 months of age with respect to speech outcomes, hearing outcomes, dentofacial development, and safety is unknown. METHODS: We randomly assigned infants with nonsyndromic isolated cleft palate, in a 1:1 ratio, to undergo standardized primary surgery at 6 months of age (6-month group) or at 12 months of age (12-month group) for closure of the cleft. Standardized assessments of quality-checked video and audio recordings at 1, 3, and 5 years of age were performed independently by speech and language therapists who were unaware of the trial-group assignments. The primary outcome was velopharyngeal insufficiency at 5 years of age, defined as a velopharyngeal composite summary score of at least 4 (scores range from 0 to 6, with higher scores indicating greater severity). Secondary outcomes included speech development, postoperative complications, hearing sensitivity, dentofacial development, and growth. RESULTS: We randomly assigned 558 infants at 23 centers across Europe and South America to undergo surgery at 6 months of age (281 infants) or at 12 months of age (277 infants). Speech recordings from 235 infants (83.6%) in the 6-month group and 226 (81.6%) in the 12-month group were analyzable. Insufficient velopharyngeal function at 5 years of age was observed in 21 of 235 infants (8.9%) in the 6-month group as compared with 34 of 226 (15.0%) in the 12-month group (risk ratio, 0.59; 95% confidence interval, 0.36 to 0.99; P = 0.04). Postoperative complications were infrequent and similar in the 6-month and 12-month groups. Four serious adverse events were reported (three in the 6-month group and one in the 12-month group) and had resolved at follow-up. CONCLUSIONS: Medically fit infants who underwent primary surgery for isolated cleft palate in adequately resourced settings at 6 months of age were less likely to have velopharyngeal insufficiency at the age of 5 years than those who had surgery at 12 months of age. (Funded by the National Institute of Dental and Craniofacial Research; TOPS ClinicalTrials.gov number, NCT00993551.).


Asunto(s)
Fisura del Paladar , Insuficiencia Velofaríngea , Preescolar , Humanos , Lactante , Técnicos Medios en Salud , Fisura del Paladar/complicaciones , Fisura del Paladar/cirugía , Europa (Continente) , Complicaciones Posoperatorias/epidemiología , Insuficiencia Velofaríngea/diagnóstico , Insuficiencia Velofaríngea/etiología , América del Sur , Técnicas de Diagnóstico Quirúrgico
2.
Appl Acoust ; 190: 108639, 2022 Mar 15.
Artículo en Inglés | MEDLINE | ID: mdl-35300323

RESUMEN

Hypernasality is a disorder where excess nasal resonance is perceived during speech, often as a result of abnormal coupling between the oral and nasal tracts known as velopharyngeal insufficiency (VPI). The most common cause of VPI is a cleft palate, which affects around 1 in 1650 babies, around ⅓ of whom have persistent speech problems after surgery. Current equipment-based assessment methods are invasive and require expert knowledge, and perceptual assessment methods are limited by the availability of expert listeners and differing interpretations of assessment scales. Spectral analysis of hypernasality within the academic community has resulted in potentially useful spectral indicators, but these are highly variable, vowel specific, and not commonly used within clinical practice. Previous works by others have developed noise excitation technologies for the measurement of oral tract transfer functions using resonance measurement devices (RMD). These techniques provide an opportunity to investigate the structural system abnormalities which lead to hypernasality, without the need for invasive measurement equipment. Thus, the work presented in this study adapts these techniques for the detection of hypernasality. These adaptations include augmentation of the hardware and development of the software, so as to be suitable for transfer function measurement at the nostrils rather than the mouth (nRMD). The new method was tested with a single participant trained in hypernasal production, producing 'normal' and hypernasal vowels, and the recordings validated through a listening test by an expert listener and calculation of nasalance values using a nasality microphone. These validation stages indicated the reliability of the captured data, and analysis of the nRMD measurements indicated the presence of a systematic difference in the frequency range 2 to 2.5 kHz between normal and hypernasal speech. Further investigation is warranted to determine the generalisability of these findings across speakers, and to investigate the origins of differences manifesting in the transfer functions between conditions. This will provide new insights into the effects of nasal tract coupling on voice acoustics, which could in turn lead to the development of useful new tools to support clinicians in their work with hypernasality.

3.
Cleft Palate Craniofac J ; 56(4): 495-501, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-29870280

RESUMEN

OBJECTIVE: Longitudinal evaluation of asymmetry of the surgically managed unilateral cleft lip and palate (UCLP) to assess the impact of facial growth on facial appearance. DESIGN: Prospective study. SETTING: Glasgow Dental Hospital and School, University of Glasgow, United Kingdom. PATIENTS: Fifteen UCLP infants. METHOD: The 3-D facial images were captured before surgery, 4 months after surgery, and at 4-year follow-up using stereophotogrammetry. A generic mesh which is a mathematical facial mask that consists of thousands of points (vertices) was conformed on the generated 3-D images. Using Procustean analysis, an average facial mesh was obtained for each age-group. A mirror image of each average mesh was mathematically obtained for the analysis of facial dysmorphology. Facial asymmetry was assessed by measuring the distances between the corresponding vertices of the original and the mirror copy of the conformed meshes, and this was displayed in color-coded map. RESULTS: There was a clear improvement in the facial asymmetry following the primary repair of cleft lip. Residual asymmetry was detected around the nasolabial region. The nasolabial region was the most asymmetrical region of the face; the philtrum, columella, and the vermillion border of the upper lip showed the maximum asymmetry which was more than 5 mm. Facial growth accentuated the underlying facial asymmetry in 3 directions; the philtrum of the upper lip was deviated toward the scar tissue on the cleft side. The asymmetry of the nose was significantly worse at 4-year follow-up ( P < .05). CONCLUSION: The residual asymmetry following the surgical repair of UCLP was more pronounced at 4 years following surgery. The conformed facial mesh provided a reliable and innovative tool for the comprehensive analysis of facial morphology in UCLP. The study highlights the need of refining the primary repair of the cleft and the potential necessity for further corrective surgery.


Asunto(s)
Labio Leporino , Fisura del Paladar , Asimetría Facial , Humanos , Imagenología Tridimensional , Lactante , Nariz , Estudios Prospectivos , Reino Unido
4.
Hum Mol Genet ; 23(10): 2569-79, 2014 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-24363063

RESUMEN

Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3' of SATB2 polyadenylation site cause a phenotype which is indistinguishable from that caused by SATB2 LOF mutations. This syndrome comprises long nose, small mouth, micrognathia, cleft palate, arachnodactyly and intellectual disability. These BPs map to a gene desert between PLCL1 and SATB2. We identified three putative cis-regulatory elements (CRE1-3) using a comparative genomic approach each of which would be placed in trans relative to SATB2 by all three BPs. CRE1-3 each bind p300 and mono-methylated H3K4 consistent with enhancer function. In silico analysis suggested that CRE1-3 contain one or more conserved SOX9-binding sites, and this binding was confirmed using chromatin immunoprecipitation on cells derived from mouse embryonic pharyngeal arch. Interphase bacterial artificial chromosome fluorescence in situ hybridization measurements in embryonic craniofacial tissues showed that the orthologous region in mice exhibits Satb2 expression-dependent chromatin decondensation consistent with Satb2 being a target gene of CRE1-3. To assess their in vivo function, we made multiple stable reporter transgenic lines for each enhancer in zebrafish. CRE2 was shown to drive SATB2-like expression in the embryonic craniofacial region. This expression could be eliminated by mutating the SOX9-binding site of CRE2. These observations suggest that SATB2 and SOX9 may be acting together via complex cis-regulation to coordinate the growth of the developing jaw.


Asunto(s)
Proteínas de Unión a la Región de Fijación a la Matriz/genética , Síndrome de Pierre Robin/diagnóstico , Factor de Transcripción SOX9/genética , Factores de Transcripción/genética , Adulto , Animales , Sitios de Unión , Células Cultivadas , Niño , Preescolar , Epistasis Genética , Femenino , Humanos , Lactante , Masculino , Ratones , Mutación , Síndrome de Pierre Robin/genética , Elementos Reguladores de la Transcripción , Adulto Joven , Pez Cebra
5.
Cleft Palate Craniofac J ; 50(3): 257-67, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-22551554

RESUMEN

OBJECTIVES : To determine whether Sommerlad palate re-repairs and Hynes pharyngoplasties cause obstructive sleep apnea/hypopnea or increased upper airway resistance. DESIGN : Prospective before-and-after study. SETTING : Tertiary cleft unit. PATIENTS : A total of 44 patients undergoing a Sommerlad palate re-repair or a Hynes pharyngoplasty. Interventions : Preoperative and postoperative multichannel cardiorespiratory sleep studies. MAIN OUTCOME MEASURES : The main outcome measures were mean arterial oxygen saturation, desaturation index, percentage of time spent with arterial oxygen saturation <90%, mean pulse rate, number of pulse rate rises (arousals) per hour, inspiratory effort derived from pulse transit time, pulse transit time arousals, and snoring. RESULTS : No patient in either group required intervention for airway obstruction or obstructive sleep apnea/hypopnea. Re-repairs caused no significant change in any parameter. Hynes caused an increase in inspiratory effort (P = .04) and obstructive sleep apnea/hypopnea grading (P = .002). All other parameters showed no significant deterioration. No patient developed more than mild/moderate obstructive sleep apnea/hypopnea. Snoring and arterial oxygen saturation levels were not reliable indicators of increased inspiratory effort. CONCLUSIONS : A palate re-repair had no significant adverse effect on the airway. A Hynes, in patients with optimized velar function, caused a significant increase in inspiratory effort and obstructive sleep apnea/hypopnea grade. However, compared with studies on midline flaps and on sphincter pharyngoplasties, a Hynes appears to be less obstructive. Failure to study changes in inspiratory effort in patients undergoing velopharyngeal incompetence surgery may underestimate the obstructive effect of pharyngoplasties.


Asunto(s)
Faringe , Polisomnografía , Niño , Humanos , Faringe/cirugía , Estudios Prospectivos , Apnea Obstructiva del Sueño/cirugía
6.
Arch Dis Child ; 108(9): 748-753, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37369383

RESUMEN

BACKGROUND: Birth prevalence of Robin sequence (RS) is commonly reported as 1 case per 8000-14 000 live births. These estimates are based on single-source case ascertainment and may miss infants who did not require hospital admission or those without overt upper airway obstruction at birth. OBJECTIVES: To identify the true birth prevalence of RS with cleft palate in the UK and Ireland from a population-based birth cohort with high case ascertainment. METHODS: Active surveillance of RS with cleft palate was carried out in the UK/Ireland using dual sources of case ascertainment: British Paediatric Surveillance Unit (BPSU) reporting card and nationally commissioned cleft services. Clinical data were collected from notifying clinicians at two time points. RESULTS: 173 live-born infants met the surveillance case definition, giving a birth prevalence of 1 case per 5250 live births (19.1 per 100 000 (95% CI 16.2 to 21.9)), and 1:2690 in Scotland. 47% had non-isolated RS, with Stickler syndrome the most common genetic diagnosis (12% RS cases). Birth prevalence derived from the combined data sources was significantly higher than from BPSU surveillance alone. CONCLUSIONS: Birth prevalence of RS in the UK/Ireland derived from active surveillance is higher than reported by epidemiological studies from several other countries, and from UK-based anomaly registries, but consistent with published retrospective data from Scotland. Dual case ascertainment sources enabled identification of cases with mild or late-onset airway obstruction that were managed without hospital admission. Studies of aetiology and equivalent well-designed epidemiological studies from other populations are needed to investigate the identified geographical variability in birth prevalence.


Asunto(s)
Obstrucción de las Vías Aéreas , Fisura del Paladar , Síndrome de Pierre Robin , Lactante , Recién Nacido , Niño , Humanos , Síndrome de Pierre Robin/epidemiología , Fisura del Paladar/epidemiología , Estudios Retrospectivos , Irlanda/epidemiología , Espera Vigilante , Escocia , Obstrucción de las Vías Aéreas/epidemiología
7.
JMIR Med Inform ; 10(10): e39616, 2022 10 26.
Artículo en Inglés | MEDLINE | ID: mdl-36287591

RESUMEN

BACKGROUND: Information retrieval (IR) from the free text within electronic health records (EHRs) is time consuming and complex. We hypothesize that natural language processing (NLP)-enhanced search functionality for EHRs can make clinical workflows more efficient and reduce cognitive load for clinicians. OBJECTIVE: This study aimed to evaluate the efficacy of 3 levels of search functionality (no search, string search, and NLP-enhanced search) in supporting IR for clinical users from the free text of EHR documents in a simulated clinical environment. METHODS: A clinical environment was simulated by uploading 3 sets of patient notes into an EHR research software application and presenting these alongside 3 corresponding IR tasks. Tasks contained a mixture of multiple-choice and free-text questions. A prospective crossover study design was used, for which 3 groups of evaluators were recruited, which comprised doctors (n=19) and medical students (n=16). Evaluators performed the 3 tasks using each of the search functionalities in an order in accordance with their randomly assigned group. The speed and accuracy of task completion were measured and analyzed, and user perceptions of NLP-enhanced search were reviewed in a feedback survey. RESULTS: NLP-enhanced search facilitated more accurate task completion than both string search (5.14%; P=.02) and no search (5.13%; P=.08). NLP-enhanced search and string search facilitated similar task speeds, both showing an increase in speed compared to the no search function, by 11.5% (P=.008) and 16.0% (P=.007) respectively. Overall, 93% of evaluators agreed that NLP-enhanced search would make clinical workflows more efficient than string search, with qualitative feedback reporting that NLP-enhanced search reduced cognitive load. CONCLUSIONS: To the best of our knowledge, this study is the largest evaluation to date of different search functionalities for supporting target clinical users in realistic clinical workflows, with a 3-way prospective crossover study design. NLP-enhanced search improved both accuracy and speed of clinical EHR IR tasks compared to browsing clinical notes without search. NLP-enhanced search improved accuracy and reduced the number of searches required for clinical EHR IR tasks compared to direct search term matching.

8.
Plast Reconstr Surg Glob Open ; 9(6): e3657, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34235039

RESUMEN

The bellwether procedures described by the Lancet Commission on Global Surgery represent the ability to deliver adult surgical services after there is a clear and easily made diagnosis. There is a need for pediatric surgery bellwether indicators. A pediatric bellwether indicator would ideally be a routinely performed procedure, for a relatively common condition that, in itself, is rarely lethal at birth, but that should ideally be treated with surgery by a standard age. Additionally, the condition should be easy to diagnose, to minimize the confounding effects of delays or failures in diagnosis. In this study, we propose the age at primary cleft lip (CL) repair as a bellwether indicator for pediatric surgery. METHOD: We reviewed the surgical records of 71,346 primary cleft surgery patients and ultimately studied age at CL repair in 40,179 patients from 73 countries, treated by Smile Train partners for 2019. Data from Smile Train's database were correlated with World Bank and WHO indicators. RESULTS: Countries with a higher average age at CL repair (delayed access to surgery) had higher maternal, infant, and child mortality rates as well as a greater risk of catastrophic health expenditure for surgery. There was also a negative correlation between delayed CL repair and specialist surgical workforce numbers, life expectancy, percentage of deliveries by C-section, total health expenditure per capita, and Lancet Commission on Global Surgery procedure rates. CONCLUSION: These findings suggest that age at CL repair has potential to serve as a bellwether indicator for pediatric surgical capacity in Lower- and Middle-income Countries.

9.
IEEE Open J Eng Med Biol ; 2: 26-35, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34812420

RESUMEN

The SARS-CoV-2 virus is primarily transmitted through virus-laden fluid particles ejected from the mouth of infected people. Face covers can mitigate the risk of virus transmission but their outward effectiveness is not fully ascertained. Objective: by using a background oriented schlieren technique, we aim to investigate the air flow ejected by a person while quietly and heavily breathing, while coughing, and with different face covers. Results: we found that all face covers without an outlet valve reduce the front flow through by at least 63% and perhaps as high as 86% if the unfiltered cough jet distance was resolved to the anticipated maximum distance of 2-3 m. However, surgical and handmade masks, and face shields, generate significant leakage jets that may present major hazards. Conclusions: the effectiveness of the masks should mostly be considered based on the generation of secondary jets rather than on the ability to mitigate the front throughflow.

10.
Plast Reconstr Surg Glob Open ; 8(9): e3080, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33133937

RESUMEN

BACKGROUND: It is anticipated that in due course the burden of emergency care due to COVID-19 infected patients will reduce sufficiently to permit elective surgical procedures to recommence. Prioritizing cleft/craniofacial surgery in the already overloaded medical system will then become an issue. The European Cleft Palate Craniofacial Association, together with the European Cleft and Craniofacial Initiative for Equality in Care, performed a brief survey to capture a current snapshot during a rapidly evolving pandemic. METHODS: A questionnaire was sent to the 2242 participants who attended 1 of 3 recent international cleft/craniofacial meetings. RESULTS: The respondents indicated that children with Robin sequence who were not responding to nonsurgical options should be treated as emergency cases. Over 70% of the respondents indicated that palate repair should be performed before the age of 15 months, an additional 22% stating the same be performed by 18 months. Placement of middle ear tubes, primary cleft lip surgery, alveolar bone grafting, and velopharyngeal insufficiency surgery also need prioritization. Children with craniofacial conditions such as craniosynostosis and increased intracranial pressure need immediate care, whilst children with craniosynostosis and associated obstructive sleep apnea syndrome or proptosis need surgical care within 3 months of the typical timing. Craniosynostosis without signs of increased intracranial pressure needs correction before the age of 18 months. CONCLUSIONS: This survey indicates several areas of cleft and craniofacial conditions that need prioritization, but also certain areas where intervention is less urgent. We acknowledge that there will be differences in the post COVID-19 response according to circumstances and policies in individual countries.

11.
Pediatr Pulmonol ; 53(8): 1040-1045, 2018 08.
Artículo en Inglés | MEDLINE | ID: mdl-29736909

RESUMEN

BACKGROUND: Robin sequence (RS) is a congenital disorder characterized by cleft palate, micrognathia, and glossoptosis which can result in clinically significant upper airway obstruction (UAO). Historically, incidence of RS in the UK has been estimated as 1 in 8500 live births. Our study describes birth prevalence, clinical characteristics, and management of RS in the East of Scotland (EoS) region. METHODS: Retrospective case note review of infants born in EoS from 2004 to 2013 with a clinical diagnosis of RS. Cases were identified by searching the regional cleft service patient database and review of Hospital Activity Statistics data. Regional live birth rate provided the denominator for incidence calculations. RESULTS: A total of 105 cases of RS were identified, giving a birth prevalence of 1:2685 live births. No trends in annual incidence were observed over the 10-year period. Intrauterine exposure to potentially teratogenic agents was identified in 17% cases, including Methadone in 8% cases. Signs of UAO were present in 93% of infants, 63% of whom required active airway management. Nasopharyngeal airway (NPA) was the most commonly used intervention (53% cases), whilst only 7% required surgical management. Infants with an underlying syndrome or additional anomalies (RS+) were significantly more likely to be admitted to a tertiary center and require surgical airway or feeding support compared to those with isolated RS. CONCLUSIONS: RS incidence in EoS is substantially higher than that reported within other populations, and than previously reported in the UK. A possible association with intrauterine Methadone exposure warrants further investigation.


Asunto(s)
Síndrome de Pierre Robin/epidemiología , Femenino , Hospitalización , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Prevalencia , Estudios Retrospectivos , Escocia/epidemiología
13.
J Craniomaxillofac Surg ; 46(6): 974-978, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29752048

RESUMEN

This study was carried out on 26 unilateral cleft lip and palate (UCLP) cases with mean age 3.6 ± 0.7 months.3D facial images were captured for each infant 2-3 days before the repair of cleft lip and at 4 months following surgery at a mean age of 8.2 ± 1.8 months, using a stereophotogrammetry imaging system. An iterative closest point (ICP) algorithm was used to superimpose the 3D facial model to its mirror image using VRMesh software. After the superimposition, the face model was divided into seven anatomical regions. Asymmetry of the entire face and of the anatomical regions was calculated by measuring the absolute distances between the 3D facial surface model and its mirror image. Colour maps were used to illustrate the patterns and magnitude of the facial asymmetry before and after surgery. There were significant decreases in the asymmetry scores for the nose, upper lip and the cheeks as a result of the surgical repair of cleft lips. Surgery did not change the magnitude of the asymmetry scores for the lower lip and chin. Residual nasolabial asymmetries were detected. The main outcome of the findings of this innovative study is to inform the required surgical refinement of primary repair of cleft lip in order to minimise facial asymmetry. We have presented a sensitive tool that could be used for comparative analysis of lip repair at various cleft centres and to guide secondary corrective surgery when required.


Asunto(s)
Labio Leporino/cirugía , Fisura del Paladar/cirugía , Cara/anatomía & histología , Asimetría Facial/cirugía , Labio/cirugía , Mejilla/anatomía & histología , Mejilla/cirugía , Mentón/anatomía & histología , Mentón/cirugía , Labio Leporino/diagnóstico por imagen , Fisura del Paladar/diagnóstico por imagen , Cara/cirugía , Asimetría Facial/diagnóstico por imagen , Humanos , Imagenología Tridimensional/métodos , Lactante , Labio/anatomía & histología , Nariz/anatomía & histología , Nariz/cirugía , Fotogrametría/métodos
16.
JAMA Pediatr ; 170(9): 894-902, 2016 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-27429161

RESUMEN

IMPORTANCE: Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper airway obstruction. Currently, no consensus exists regarding the diagnosis and evaluation of children with RS. An international, multidisciplinary consensus group was formed to begin to overcome this limitation. OBJECTIVE: To report a consensus-derived set of best practices for the diagnosis and evaluation of infants with RS as a starting point for defining standards and management. EVIDENCE REVIEW: Based on a literature review and expert opinion, a clinical consensus report was generated. FINDINGS: Because RS can occur as an isolated condition or as part of a syndrome or multiple-anomaly disorder, the diagnostic process for each newborn may differ. Micrognathia is hypothesized as the initiating event, but the diagnosis of micrognathia is subjective. Glossoptosis and upper airway compromise complete the primary characteristics of RS. It can be difficult to judge the severity of tongue base airway obstruction, and the possibility of multilevel obstruction exists. The initial assessment of the clinical features and severity of respiratory distress is important and has practical implications. Signs of upper airway obstruction can be intermittent and are more likely to be present when the infant is asleep. Therefore, sleep studies are recommended. Feeding problems are common and may be exacerbated by the presence of a cleft palate. The clinical features and their severity can vary widely and ultimately dictate the required investigations and treatments. CONCLUSIONS AND RELEVANCE: Agreed-on recommendations for the initial evaluation of RS and clinical descriptors are provided in this consensus report. Researchers and clinicians will ideally use uniform definitions and comparable assessments. Prospective studies and the standard application of validated assessments are needed to build an evidence base guiding standards of care for infants and children with RS.


Asunto(s)
Consenso , Síndrome de Pierre Robin/diagnóstico , Guías de Práctica Clínica como Asunto , Diagnóstico Diferencial , Humanos , Lactante , Recién Nacido
17.
Plast Reconstr Surg ; 114(2): 307-15, 2004 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-15277793

RESUMEN

The purpose of this study was to describe the previously unreported tendinous insertion of the anterolateral fibers of the levator veli palatini (levator) and discuss possible implications for levator function and cleft palate repair. The velopharyngeal anatomy in normal adult cadavers was studied, with histologic confirmation of anatomical findings. These findings were compared with a more limited study of levator anatomy in cleft palates at the time of intraoperative muscle dissection. Just before entering the velum, the levator divides into two parts. The smaller bundle of muscle fibers (anterolateral part) runs anteriorly, close to the lateral pharyngeal wall, and inserts into the palatine aponeurosis through a number of fine tendons. The main part of the muscle runs medially into the velum, where it fans out and forms the levator sling with the contralateral levator. The possible function of the anterolateral part of the levator is discussed. Inadequate release of the tendinous insertions at the time of palate repair may tether the levator anteriorly and compromise muscle retropositioning or may result in splitting of the levator, so that only part of the levator is retropositioned.


Asunto(s)
Fisura del Paladar/patología , Músculos Palatinos/patología , Paladar Blando/patología , Tendones/anatomía & histología , Insuficiencia Velofaríngea/cirugía , Anciano , Anciano de 80 o más Años , Fisura del Paladar/cirugía , Femenino , Humanos , Contracción Isométrica/fisiología , Masculino , Microcirugia , Músculos Palatinos/cirugía , Paladar Duro/patología , Paladar Duro/cirugía , Paladar Blando/cirugía , Valores de Referencia , Insuficiencia Velofaríngea/patología
18.
Eur J Med Genet ; 57(10): 587-95, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25195018

RESUMEN

Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated features and assess each gene within the region as a candidate for the PRS component of the phenotype. Clinical array-based comparative genome hybridisation (aCGH) data were used to define a 2.08 Mb minimum region of overlap among four de novo deletions and one mother-son inherited deletion associated with at least one component of PRS. Commonly associated anomalies were talipes equinovarus (TEV), finger contractures and crumpled ear helices. Expression analysis of the orthologous genes within the PRS critical region in embryonic mice showed that the strongest candidate genes were FBN2 and PHAX. Targeted aCGH of the critical region and sequencing of these genes in a cohort of 25 PRS patients revealed no plausible disease-causing mutations. In conclusion, deletion of ∼2 Mb on 5q23 region causes a clinically recognisable subtype of PRS. Haploinsufficiency for FBN2 accounts for the digital and auricular features. A possible critical region for TEV is distinct and telomeric to the PRS region. The molecular basis of PRS in these cases remains undetermined but haploinsufficiency for PHAX is a plausible mechanism.


Asunto(s)
Cromosomas Humanos Par 5 , Eliminación de Gen , Proteínas de Microfilamentos/genética , Proteínas de Transporte Nucleocitoplasmático/genética , Fosfoproteínas/genética , Síndrome de Pierre Robin/genética , Eliminación de Secuencia/genética , Adolescente , Niño , Fisura del Paladar/genética , Pie Equinovaro/complicaciones , Contractura/congénito , Oído Externo/anomalías , Femenino , Fibrilina-2 , Fibrilinas , Dedos , Haploinsuficiencia/genética , Humanos , Masculino , Mutación Missense , Fenotipo , Síndrome , Adulto Joven
19.
Cleft Palate Craniofac J ; 40(2): 203-6, 2003 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-12605529

RESUMEN

OBJECTIVE: The development of a perforation in a submucous cleft palate (SMCP) is a rare occurrence, with only a few cases reported in the literature. We describe and illustrate four cases of SMCPs with a perforation in the palate. RESULTS AND CONCLUSIONS: Recognition of the symptoms and signs of an SMCP should enable early diagnosis and treatment of this condition in symptomatic patients. However, in patients in whom the diagnosis has been missed or in those who have been asymptomatic, the development of a perforation may be the presenting feature of an SMCP. A history of possible trauma to the palate was found in two cases. Relatively minor trauma may cause perforation of the thin translucent central mucosa in an SMCP. In neonates, perforations surrounded by very thin mucosa may increase in size. The perforation can be closed at the same time as the SMCP repair and does not significantly alter the surgical treatment of an SMCP.


Asunto(s)
Fisura del Paladar/diagnóstico , Mucosa Bucal/patología , Adulto , Preescolar , Fisura del Paladar/complicaciones , Femenino , Humanos , Recién Nacido , Masculino , Paladar Blando/patología , Rotura Espontánea/etiología
20.
Cleft Palate Craniofac J ; 40(3): 263-8, 2003 May.
Artículo en Inglés | MEDLINE | ID: mdl-12733954

RESUMEN

OBJECTIVE: To describe the use of a unilateral modification of the Moore pharyngoplasty in the treatment of unilateral or asymmetric velopharyngeal incompetence (VPI) and analyze the results in a consecutive series of patients operated on by a single surgeon. DESIGN: Blind assessment of randomized speech and nasendoscopy recordings. SETTING: A two-site tertiary referral cleft unit. PATIENTS: Eighteen consecutive patients with asymmetrical or unilateral VPI of varying etiology. INTERVENTIONS: A unilateral Moore pharyngoplasty was performed in all patients. Three patients underwent radical dissection and retropositioning of the velar muscles at the same time as the unilateral Moore pharyngoplasty. MAIN OUTCOME MEASURES: Pre- and postoperative nasality and nasal airflow using the CAPS score, assessment of nasendoscopy recordings, and the rate of further surgery. RESULTS: There was a significant improvement in hypernasality (p =.014). There was a highly significant decrease in the size of the velopharyngeal gap on the side on which the Moore pharyngoplasty was performed (p =.004) as well as a highly significant decrease in the total gap size (p =.003). The Moore flap was effective in obliterating the lateral pharyngeal recess in 11 of 12 patients (p =.004). Three patients required further velopharyngeal surgery. CONCLUSIONS: In appropriately selected patients, a unilateral Moore pharyngoplasty is a safe and effective treatment for unilateral or asymmetric VPI. If indicated, a radical dissection and retropositioning of the velar muscles may be combined with a Moore pharyngoplasty.


Asunto(s)
Procedimientos Quirúrgicos Orales/métodos , Paladar Blando/cirugía , Faringe/cirugía , Insuficiencia Velofaríngea/cirugía , Adolescente , Adulto , Niño , Preescolar , Endoscopía , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Resultado del Tratamiento , Calidad de la Voz
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