RESUMEN
BACKGROUND: Longstanding uncertainty surrounds the selection of surgical protocols for unilateral cleft lip and palate, and randomised trials have only rarely been performed. The Scandcleft Project consists of three trials commenced in 1997 involving ten centres in Denmark, Finland, Norway, Sweden, and the UK. Three groups of centres tested a newly-defined common technique for palatal repair (Arm A) against their local protocols (Arms B, C, D). Arm A was familiar to most of the surgeons in Trial 1, but not to the surgeons in the other Trials. AIM: To evaluate surgical events and complications of the 448 (293 boys, 155 girls) patients with complete unilateral cleft lip and palate (UCLP) enrolled in the three trials. METHOD: The three trials were carried out in parallel in adherence with a fully developed, ethically approved protocol. Operative time, bleeding, complications, and major dehiscence during and after both primary surgeries were recorded by the surgeon. Rates of fistula and surgery for velopharyngeal incompetence (VPI) were assessed until the youngest patient of the study had reached the age of 9 years. Pearson Chi-square statistical analysis was used to compare the outcomes. RESULTS: No significant differences in bleeding, infection, anaesthetic complications or length of hospital stay between the different arms were found for Trial 1. However, in Trials 2 and 3 there were more airway problems in Arm A than with the traditional local protocols (Arms C or D). In Trial 3 fistula and VPI surgery rates were also higher in Arm A. CONCLUSIONS: The results do not provide statistical evidence that any technique is better than others, but indicate that surgery was more problematic for surgeons who were still gaining experience with an unfamiliar surgical protocol. TRIAL REGISTRATION: ISRCTN29932826.
Asunto(s)
Labio Leporino/cirugía , Fisura del Paladar/cirugía , Procedimientos de Cirugía Plástica/métodos , Insuficiencia Velofaríngea/etiología , Preescolar , Labio Leporino/diagnóstico , Fisura del Paladar/diagnóstico , Dinamarca , Femenino , Finlandia , Estudios de Seguimiento , Humanos , Lactante , Masculino , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/fisiopatología , Ensayos Clínicos Controlados Aleatorios como Asunto , Procedimientos de Cirugía Plástica/efectos adversos , Medición de Riesgo , Suecia , Factores de Tiempo , Resultado del Tratamiento , Insuficiencia Velofaríngea/fisiopatología , Insuficiencia Velofaríngea/terapiaRESUMEN
BACKGROUND AND AIMS: Longstanding uncertainty surrounds the selection of surgical protocols for the closure of unilateral cleft lip and palate, and randomised trials have only rarely been performed. This paper is an introduction to three randomised trials of primary surgery for children born with complete unilateral cleft lip and palate (UCLP). It presents the protocol developed for the trials in CONSORT format, and describes the management structure that was developed to achieve the long-term engagement and commitment required to complete the project. METHOD: Ten established national or regional cleft centres participated. Lip and soft palate closure at 3-4 months, and hard palate closure at 12 months served as a common method in each trial. Trial 1 compared this with hard palate closure at 36 months. Trial 2 compared it with lip closure at 3-4 months and hard and soft palate closure at 12 months. Trial 3 compared it with lip and hard palate closure at 3-4 months and soft palate closure at 12 months. The primary outcomes were speech and dentofacial development, with a series of perioperative and longer-term secondary outcomes. RESULTS: Recruitment of 448 infants took place over a 9-year period, with 99.8% subsequent retention at 5 years. CONCLUSION: The series of reports that follow this introductory paper include comparisons at age 5 of surgical outcomes, speech outcomes, measures of dentofacial development and appearance, and parental satisfaction. The outcomes recorded and the numbers analysed for each outcome and time point are described in the series. TRIAL REGISTRATION: ISRCTN29932826.
Asunto(s)
Labio Leporino/cirugía , Fisura del Paladar/cirugía , Procedimientos de Cirugía Plástica/métodos , Calidad de Vida , Distribución de Chi-Cuadrado , Preescolar , Labio Leporino/diagnóstico , Labio Leporino/psicología , Fisura del Paladar/diagnóstico , Fisura del Paladar/psicología , Manejo de la Enfermedad , Estética , Femenino , Estudios de Seguimiento , Planificación en Salud , Humanos , Lactante , Masculino , Variaciones Dependientes del Observador , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/fisiopatología , Ensayos Clínicos Controlados Aleatorios como Asunto , Medición de Riesgo , Resultado del TratamientoRESUMEN
Agnathia-otocephaly complex is a malformation characterized by absent/hypoplastic mandible and abnormally positioned ears. Mutations in two genes, PRRX1 and OTX2, have been described in a small number of families with this disorder. We performed clinical and genetic testing in an additional family. The proband is a healthy female with a complicated pregnancy history that includes two offspring diagnosed with agnathia-otocephaly during prenatal ultrasound scans. Exome sequencing was performed in fetal DNA from one of these two offspring revealing a heterozygous duplication in OTX2: c.271_273dupCAG, p.(Gln91dup). This change leads to the insertion of a glutamine within the OTX2 homeodomain region, and is predicted to alter this signaling molecule's ability to interact with DNA. The same variant was also identified in the proband's clinically unaffected 38-year-old husband and their 9-year-old daughter, who presented with a small mandible, normal ears and velopharyngeal insufficiency due to a short hemi-palate. This unusual presentation of OTX2-related disease suggests that OTX2 might have a role in palatal hypoplasia cases. A previously unreported OTX2 variant associated with extreme intrafamilial variability is described and the utility of exome sequencing as a tool to confirm the diagnosis of agnathia-otocephaly and to inform the reproductive decisions of affected families is highlighted.
Asunto(s)
Anomalías Múltiples/genética , Duplicación de Gen , Factores de Transcripción Otx/genética , Sistemas de Lectura , Insuficiencia Velofaríngea/genética , Anomalías Múltiples/diagnóstico , Adulto , Niño , Femenino , Estudios de Asociación Genética , Heterocigoto , Humanos , Masculino , Modelos Moleculares , Mutación , Factores de Transcripción Otx/química , Linaje , Fenotipo , Conformación Proteica , Insuficiencia Velofaríngea/diagnósticoRESUMEN
OBJECTIVE: We investigated the effect of the bacterial flora of the nose and throat on the outcome of the initial repairs of the cleft palate in the presence of prophylactic antibiotics. DESIGN: A retrospective review of 90 procedures in 66 patients who had cleft palate repair between April 2005 and June 2007 was conducted at Booth Hall Children's Hospital, Manchester, U.K. Both isolated cleft palate and cleft lip and palate patients were included. Exclusion criteria included syndromic cases, other medical disorders, and revisions of previous cleft palate repairs. Nose and throat swabs were taken on admission. Benzyl penicillin and flucloxacillin were given perioperatively. The occurrence of oronasal fistulas was correlated with the bacteria grown on culture. RESULTS: The oronasal fistula rate was 15.9%. The highest fistula rate in procedures with positive swabs was seen with Moraxella catarrhalis. CONCLUSIONS: M. catarrhalis has not been previously recognized as a pathogen in cleft palate repairs. This study demonstrates a higher fistula rate in procedures positive for M. catarrhalis. Other factors that may have contributed to the fistula formation include the severity of the initial cleft and technical factors. Further study is required before a definitive link can be established.
Asunto(s)
Labio Leporino/cirugía , Fisura del Paladar/cirugía , Moraxella catarrhalis/aislamiento & purificación , Infecciones por Moraxellaceae/diagnóstico , Nariz/microbiología , Faringe/microbiología , Complicaciones Posoperatorias/microbiología , Antibacterianos/uso terapéutico , Profilaxis Antibiótica , Floxacilina/uso terapéutico , Estudios de Seguimiento , Humanos , Enfermedades Nasales/microbiología , Fístula Oral/microbiología , Penicilina G/uso terapéutico , Fístula del Sistema Respiratorio/microbiología , Estudios Retrospectivos , Staphylococcus aureus/aislamiento & purificación , Streptococcus/aislamiento & purificación , Resultado del TratamientoRESUMEN
OBJECTIVE: The aim of this trial was to compare the relative effectiveness (efficacy and morbidity) of two surgical procedures for correcting velopharyngeal insufficiency (VPI). DESIGN: This was an international multicenter randomized trial to study the outcome of two surgical procedures (flap and sphincter pharyngoplasty) for speech, incidence of sleep apnea, and surgical complications. METHOD: Ninety-seven patients 3 to 25 years old with repaired cleft palate and previously identified VPI were enrolled from five centers in the United States, Norway, and the U.K. Data were collected at presurgery, 3 months postsurgery, and 12 months postsurgery for subsequent analysis blind to the procedure. Main outcome measures included perceptual speech parameters, sleep apnea, nasalance measures, endoscopic features, and surgical complications. RESULTS: Groups for both surgical procedures achieved a high level of clinical improvement. At 3 months postsurgery, elimination of hypernasal resonance was achieved in twice as many patients after the flap procedure. This reached significance. However, at 12 months postsurgery, no statistically significant difference in outcomes remained between the two procedures for resonance, nasalance, endoscopic outcomes, or surgical complications. Flap and sphincter pharyngoplasty rarely resulted in clinically significant sleep apnea, and no difference was detected between the two procedures in the long-term incidence of sleep apnea. CONCLUSIONS: Despite strongly held views in the literature concerning the relative effectiveness and safety of flap and sphincter pharyngoplasty, no significant differences were detected 1 year postoperatively.