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1.
Cleft Palate Craniofac J ; 57(3): 352-363, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31928085

RESUMO

OBJECTIVE: To compare speech outcome following different sequencing of hard and soft palate closure between arms and centers within trial 3 and compare results to peers without cleft palate. DESIGN: A prospective randomized clinical trial. SETTING: Two Norwegian and 2 British centers. PARTICIPANTS: One hundred thirty-six 5-year-olds with unilateral cleft lip and palate were randomized to either lip and soft palate closure at 3 to 4 months and hard palate closure at 12 months (arm A) or lip and hard palate closure at 3 to 4 months and soft palate closure at 12 months (arm D). MAIN OUTCOME MEASURES: A composite measure of velopharyngeal competence (VPC), overall assessment of VPC from connected speech (VPC-Rate). Percentage of consonants correct (PCC), active cleft speech characteristics (CSCs), subdivided by oral retracted and nonoral errors, and developmental speech characteristics (DSCs). RESULTS: Across the trial, 47% had VPC, with no statistically significant difference between arms within or across centers. Thirty-eight percent achieved a PCC score of >90%, with no difference between arms or centers. In one center, significantly more children in arm A produced ≥3 active CSCs (P < .05). Across centers, there was a statistically significant difference in active CSCs (arm D), oral retracted CSCs (arm D), and DSCs (arms A and D). CONCLUSIONS: Less than half of the 5-year-olds achieved VPC and around one-third achieved age-appropriate PCC scores. Cleft speech characteristics were more common in arm A, but outcomes varied within and across centers. Thus, outcome of the same surgical method can vary substantially across centers.


Assuntos
Fenda Labial , Fissura Palatina , Criança , Humanos , Estudos Prospectivos , Fala , Distúrbios da Fala , Resultado do Tratamento
2.
J Plast Surg Hand Surg ; 51(1): 14-20, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28218552

RESUMO

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.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Insuficiência Velofaríngea/etiologia , Pré-Escolar , Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Dinamarca , Feminino , Finlândia , Seguimentos , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Ensaios Clínicos Controlados Aleatórios como Assunto , Procedimentos de Cirurgia Plástica/efeitos adversos , Medição de Risco , Suécia , Fatores de Tempo , Resultado do Tratamento , Insuficiência Velofaríngea/fisiopatologia , Insuficiência Velofaríngea/terapia
3.
J Plast Surg Hand Surg ; 51(1): 2-13, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28218559

RESUMO

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.


Assuntos
Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Qualidade de Vida , Distribuição de Qui-Quadrado , Pré-Escolar , Fenda Labial/diagnóstico , Fenda Labial/psicologia , Fissura Palatina/diagnóstico , Fissura Palatina/psicologia , Gerenciamento Clínico , Estética , Feminino , Seguimentos , Planejamento em Saúde , Humanos , Lactente , Masculino , Variações Dependentes do Observador , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Ensaios Clínicos Controlados Aleatórios como Assunto , Medição de Risco , Resultado do Tratamento
4.
J Craniofac Surg ; 24(2): 501-4, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23524725

RESUMO

BACKGROUND: There are no previous blinded studies for comparison of preoperative versus postoperative perceptual speech assessments when using a pharyngeal flap for treating velopharyngeal insufficiency (VPI) in patients diagnosed with 22q11.2 deletion syndrome. The aim of the study was to evaluate the effect of superiorly based pharyngeal flap surgery on speech in these patients using blinded judgments of experienced speech therapists. METHODS: A retrospective study of 12 consecutive patients who had undergone pharyngeal flap surgery for treatment of VPI between 2002 and 2009 was conducted. Seven girls and 5 boys between 4 and 15 (median, 6) years old at the time of surgery were included in the study. Six patients were born with a submucous cleft palate (including 2 occult), and 1 patient, with an overt cleft palate. The remaining 5 patients had no signs of a palatal pathology. All palatal clefts had been repaired before pharyngeal flap surgery except in 2 patients with occult submucous cleft palate. Preoperative and postoperative audio recordings were blinded for scoring independently by 3 senior speech therapists. RESULTS: There was a significant improvement in hypernasality (P = 0.002), audible nasal emission (P = 0.033), weak pressure consonants (P = 0.008), and speech intelligibility (P = 0.021) after pharyngeal flap surgery. Hyponasality did not develop significantly with surgery. One patient was diagnosed with obstructive sleep apnea. CONCLUSIONS: Superiorly based pharyngeal flap resulted in a significant speech improvement in 12 consecutive patients with 22q11.2 deletion syndrome having VPI.


Assuntos
Síndrome de DiGeorge/complicações , Síndrome de DiGeorge/genética , Faringe/cirurgia , Retalhos Cirúrgicos , Insuficiência Velofaríngea/genética , Insuficiência Velofaríngea/cirurgia , Adolescente , Criança , Pré-Escolar , Fissura Palatina/complicações , Fissura Palatina/cirurgia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento
5.
Cleft Palate Craniofac J ; 48(6): 708-16, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21463181

RESUMO

OBJECTIVE: To measure velopharyngeal closure with magnetic resonance imaging (MRI) and to evaluate speech when treating velopharyngeal insufficiency (VPI) with autologous fat transplantation to the velopharynx. PATIENTS: Nine patients were recruited. Six patients had undergone cleft palate repair and subsequently developed VPI. Three were noncleft patients of which one had developed VPI after nasopharyngeal cancer treatment; another patient had developed VPI after combined adenotonsillectomy, and a third patient had VPI of unknown etiology. MAIN OUTCOME MEASURE: Preoperative and 1-year postoperative MRIs were obtained during vocal rest and during phonation. Data measured were the velopharyngeal distance in the sagittal plane and the velopharyngeal gap area in the axial plane. Preoperative and 1-year postoperative audio recordings were blinded for scoring independently by three senior speech therapists. RESULTS: When comparing preoperative and 1-year postoperative MRI during phonation we found a significant reduction of the median velopharyngeal distance from 4 to 0 mm (p = .011), and a significant reduction of the median velopharyngeal gap area from 42 to 34 mm(2) (p = .038). Nasal turbulence improved significantly (p = .011). Hypernasality/hyponasality and audible nasal emission did not change significantly. CONCLUSIONS: Autologous fat transplantation to the velopharynx resulted in a significant reduction of the velopharyngeal distance and the velopharyngeal gap area during phonation, as measured by MRI. This was in accordance with a significant improvement in nasal turbulence. However, hypernasality and audible nasal emission did not change significantly and could not be correlated to the MRI findings.


Assuntos
Tecido Adiposo/transplante , Imageamento por Ressonância Magnética , Medida da Produção da Fala/métodos , Insuficiência Velofaríngea/fisiopatologia , Insuficiência Velofaríngea/cirurgia , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fonação/fisiologia , Estudos Prospectivos , Transplante Autólogo , Resultado do Tratamento
6.
Scand J Plast Reconstr Surg Hand Surg ; 44(1): 26-30, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20158415

RESUMO

Our aim was to identify factors associated with the incidence of pharyngoplasty in patients with clefts of the secondary palate (CP). We studied 351 children born between 1968 and 1999 with CP alone, who had their primary operation at the Department of Plastic Surgery, Rikshospitalet University Hospital, Oslo, Norway. Data were collected retrospectively from the archives of the Oslo Cleft Team. During the study period 1968-2007, 68 children (19%) had a pharyngoplasty to improve their speech. Mean follow up time from the primary operation was 16 years (range 2-37). The estimated incidence of pharyngoplasty at 5, 7, 10, and 15 years after the primary operation was 9%, 12%, 14%, and 15%, respectively. Thirty-one (46%) of the pharyngoplasties were done more than seven years after the primary palatal repair. Children with total clefts of the secondary palate had a pharyngoplasty more often than children with clefts of the soft palate alone (7 years incidence: 11 (42%) compared with 22 (10%), p<0.001). Sex, age at time of primary operation, and surgeon's experience were not significantly associated with the necessity for pharyngoplasty. Our study suggested that the necessity for pharyngoplasty is related to the severity of clefts, and duration of observation.


Assuntos
Fissura Palatina/cirurgia , Procedimentos Cirúrgicos Otorrinolaringológicos , Faringe/cirurgia , Transtornos da Articulação/cirurgia , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Índice de Gravidade de Doença
7.
Cleft Palate Craniofac J ; 47(4): 335-42, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19860491

RESUMO

OBJECTIVE: To describe Norwegian individuals born with cleft of the secondary palate (CP) in relation to cleft severity, Pierre Robin sequence, associated anomalies, syndromes, and hypodontia and to present estimated longitudinal prevalences. PATIENTS: Nine hundred ninety-four individuals with CP born between 1960 and 2002 referred to the Oslo Cleft Team (OCT). METHOD: Data were collected retrospectively from the archives of the OCT. RESULTS: Among all CP, 7.6% had recognized syndromes, 30.5% had associated anomalies, and in 61.9%, CP was the only malformation. Pierre Robin sequence was recorded in 11.7%. Female predominance was observed both in general and in each cleft severity subgroup. Of 610 individuals with CP, only 25.1% were diagnosed with a submucous cleft palate, 45.9% had a cleft of the soft palate only, and in 29%, the cleft extended into the hard palate. Among 309 individuals over the age of 10 years with CP only, hypodontia was found in 28.5%, and in individuals with Pierre Robin sequence, hypodontia was found in 44.1%. During the period 1965 to 1999, the estimated prevalence of individuals with CP in the OCT uptake area was found to be 0.59 per 1000 live births. The estimated prevalence increased slightly over time, both overall and within the cleft severity subgroups. CONCLUSION: A large proportion of a Norwegian population with CP had syndrome or additional anomalies. The estimated prevalence of CP in this population increased slightly during the observation period.


Assuntos
Fissura Palatina/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Noruega/epidemiologia , Prevalência , Encaminhamento e Consulta , Estudos Retrospectivos , Índice de Gravidade de Doença , Síndrome
8.
Artigo em Inglês | MEDLINE | ID: mdl-18991171

RESUMO

Our aim was to assess whether severity of cleft, age at the time of repair, and the operating surgeon's experience contributed to the development of fistulas in patients with clefts of the secondary palate. We studied 814 children born between 1960 and 1999 with clefts of the secondary palate who had had their primary operation at the Department of Plastic Surgery, Rikshospitalet University Hospital, Oslo, Norway. Data were collected retrospectively from the archives of the Oslo Cleft Team. Palatal fistulas developed in 36 patients (4%), among whom 17 patients required correction (2% of the total). The incidence of fistulas was not related to sex. Patients with clefts of the hard and soft palate developed fistulas more often than patients with clefts of the soft palate only (8% compared with 1%, p<0.001). Patients with submucous cleft palates developed fistulas significantly more often than patients with clefts of the soft palate only (5% compared with 1%, p=0.02). Among patients with clefts of the hard and soft palate, the incidence of fistulas increased significantly with increasing age at the time of palatal closure (p=0.005). The incidence decreased significantly the more experienced the operating surgeon was for treating clefts of the hard and soft palate (p<0.001) but not for submucous clefts. Among patients with clefts of the hard and soft palate who had the palate closed at 14 months of age or later, the incidence of fistulas decreased from 21% when the operating surgeon had little experience to 0 when the surgeon had much experience. The incidence of fistulas was related to severity of cleft, age at palatal closure, and the operating surgeon's experience.


Assuntos
Fissura Palatina/cirurgia , Fístula Bucal/etiologia , Procedimentos de Cirurgia Plástica/efeitos adversos , Fatores Etários , Criança , Pré-Escolar , Fissura Palatina/epidemiologia , Feminino , Seguimentos , Humanos , Lactente , Masculino , Fístula Bucal/epidemiologia , Palato Duro/anormalidades , Palato Duro/cirurgia , Palato Mole/anormalidades , Palato Mole/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores Sexuais , Resultado do Tratamento , Cicatrização
9.
BMJ ; 336(7641): 432-4, 2008 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-18250102

RESUMO

OBJECTIVE: To estimate the relative risk of recurrence of oral cleft in first degree relatives in relation to cleft morphology. DESIGN: Population based cohort study. SETTING: Data from the medical birth registry of Norway linked with clinical data on virtually all cleft patients treated in Norway over a 35 year period. PARTICIPANTS: 2.1 million children born in Norway between 1967 and 2001, 4138 of whom were treated for an oral cleft. MAIN OUTCOME MEASURE: Relative risk of recurrence of isolated clefts from parent to child and between full siblings, for anatomic subgroups of clefts. RESULTS: Among first degree relatives, the relative risk of recurrence of cleft was 32 (95% confidence interval 24.6 to 40.3) for any cleft lip and 56 (37.2 to 84.8) for cleft palate only (P difference=0.02). The risk of clefts among children of affected mothers and affected fathers was similar. Risks of recurrence were also similar for parent-offspring and sibling-sibling pairs. The "crossover" risk between any cleft lip and cleft palate only was 3.0 (1.3 to 6.7). The severity of the primary case was unrelated to the risk of recurrence. CONCLUSIONS: The stronger family recurrence of cleft palate only suggests a larger genetic component for cleft palate only than for any cleft lip. The weaker risk of crossover between the two types of cleft indicates relatively distinct causes. The similarity of mother-offspring, father-offspring, and sibling-sibling risks is consistent with genetic risk that works chiefly through fetal genes. Anatomical severity does not affect the recurrence risk in first degree relatives, which argues against a multifactorial threshold model of causation.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Adolescente , Criança , Pré-Escolar , Fenda Labial/patologia , Fissura Palatina/patologia , Métodos Epidemiológicos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem , Recidiva
10.
Plast Reconstr Surg ; 121(2): 587-595, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18300979

RESUMO

BACKGROUND: The authors describe morphologic variations of oral clefts in a large population-based sample, especially variations in severity and laterality. The authors present 3616 cleft cases treated in Norway for oral clefts between 1967 and 1998. METHODS: Classification of cleft morphology was based on clefting in 9 anatomical focal areas. A three-digit coding system provides a total of 63 possible cleft combinations. Their distribution in the population is presented as a whole and stratified by the baby's sex and the presence of accompanying malformations. The relative proportion of cleft types is illustrated in modified striped Y Kernahan diagrams. RESULTS: Clefts of the lip or palate are more severe when both cleft types are present. Among babies with cleft lip, 18 percent of lips were severe (i.e., complete cleft of the primary palate) in the absence of cleft palate, compared with 81 percent severe when cleft palate was also present. Similarly, among babies with cleft palate, 40 percent were severe (complete cleft of the secondary palate) in the absence of cleft lip, compared with 93 percent when cleft lip was also present. The more severe the cleft lip, the more likely that the baby had an accompanying cleft palate. Girls were more likely to have severe clefts, as were patients who had other types of congenital disabilities. Although cleft lip was more frequent on the left side, clefts were not more severe on the left side. In bilateral cleft lip, the severity was similar on both sides. CONCLUSION: The authors' data provide a population-based reference for common and rare variants of oral clefts.


Assuntos
Fenda Labial/classificação , Fenda Labial/epidemiologia , Fissura Palatina/classificação , Fissura Palatina/epidemiologia , Feminino , Humanos , Lactente , Masculino , Noruega/epidemiologia , Vigilância da População , Prevalência , Estudos Retrospectivos , Índice de Gravidade de Doença , Distribuição por Sexo
11.
Acta Obstet Gynecol Scand ; 86(12): 1453-7, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17851803

RESUMO

BACKGROUND: Epidemiological surveillance and research on birth defects require accurate diagnosis and adequate registration. In this regard, the performance of national birth registries is not well described. METHODS: We linked clinical data from all 3,616 cleft cases treated in Norway between 1967 and 1998 with data from the Medical Birth Registry of Norway, and calculated the proportion of clinically verified cases reported to the Registry, stratified by severity. RESULTS: The cleft type most completely ascertained was cleft lip and palate (CLP), of which 94% were reported. Ascertainment was less complete for cleft lip alone (83% recorded), and cleft palate only (CPO) (57% recorded). For each of the three types of clefts, completeness of reporting depended on severity of the cleft. For example, 71% of cases with severe CPO were reported, while only 11% of cases with mild CPO were reported. CONCLUSIONS: Ascertainment was strongly related to cleft type and severity. To the degree that severity of birth defects may be related to their cause, these patterns of registration have implications for surveillance of birth defects as well as the conduct of etiologic studies. The large proportion of cleft palate cases unrecorded at birth suggests that clinical examination of the newborn palate is often inadequate.


Assuntos
Benchmarking , Declaração de Nascimento , Fissura Palatina/epidemiologia , Grupos Diagnósticos Relacionados/normas , Vigilância da População , Sistema de Registros/normas , Fissura Palatina/etiologia , Fissura Palatina/patologia , Humanos , Recém-Nascido , Noruega/epidemiologia , Índice de Gravidade de Doença
13.
Artigo em Inglês | MEDLINE | ID: mdl-17701730

RESUMO

We assessed patient-reported outcomes in 34 women who had had their breasts reconstructed with a deep inferior epigastric perforator (DIEP) flap, and compared them with those of 24 patients who were waiting for breast reconstruction. Both groups completed the Short Form 36 (SF-36) questionnaire. The DIEP flap group also assessed their preoperative conditions retrospectively and completed a study-specific questionnaire. The DIEP group reported higher SF-36 mental health scores after the operation than before, but no difference on other SF-36 scales. There was no difference on any SF-36 scale between patients who had had DIEP flaps and those waiting for reconstruction. Most of the DIEP group was satisfied with their bodies, the appearance of their breasts after reconstruction, and would have chosen operation again. In conclusion, there was little improvement in generic health-related quality of life after reconstruction with a DIEP flap. However, patients' satisfaction was high after the procedure.


Assuntos
Mamoplastia/métodos , Satisfação do Paciente , Retalhos Cirúrgicos , Mama/cirurgia , Neoplasias da Mama/terapia , Estudos Transversais , Feminino , Nível de Saúde , Humanos , Mastectomia , Pessoa de Meia-Idade , Qualidade de Vida , Reoperação , Inquéritos e Questionários , Resultado do Tratamento
14.
Eur J Epidemiol ; 22(6): 389-95, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17484027

RESUMO

The epidemiology of cleft palate with multiple defects is often thought to be different from that of cleft palate alone, but there are few empirical data on this question. We explored this in a population-based data set created by combining data from two sources: the 1.8 million live births recorded from 1967 to 1998 in the Norwegian Birth Registry, and the two Norwegian surgical centers that repair cleft palate. Accompanying defects were identified from either source. Stratified analysis and logistic regression were used to assess relative risks by covariates. Of 1,431 babies with cleft palate, 31 % had another birth defect recorded by one or both sources. Prevalence of isolated cleft palate was steady over time, while cleft palate with other defects increased substantially. Girls had a higher risk of isolated cleft palate (relative risk 1.4; 95% confidence interval, 1.2-1.6) but not of cleft palate accompanied by other defects (1.1; 0.88-1.3). Older parents and parents who were first cousins had no increased risk of isolated cleft palate, but were twice as likely as others to have a baby with cleft palate accompanied by other defects. Risk factors differ between cases of cleft palate with and without accompanying defects.


Assuntos
Anormalidades Múltiplas/epidemiologia , Fissura Palatina/epidemiologia , Feminino , Humanos , Masculino , Estado Civil , Idade Materna , Noruega/epidemiologia , Idade Paterna , Distribuição por Sexo
15.
Artigo em Inglês | MEDLINE | ID: mdl-17484185

RESUMO

We describe a 58-year-old man who developed green urine after operation on a pressure ulcer. The discolouration disappeared gradually after two days. We think that the use of methylene blue dye during the revision of the wounds and the use of the sedative propofol could have caused it.


Assuntos
Úlcera por Pressão/cirurgia , Urina/química , Anestésicos Intravenosos , Cor , Humanos , Masculino , Azul de Metileno , Microcirculação , Pessoa de Meia-Idade , Propofol
16.
BMJ ; 334(7591): 464, 2007 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-17259187

RESUMO

OBJECTIVE: To explore the role of folic acid supplements, dietary folates, and multivitamins in the prevention of facial clefts. DESIGN: National population based case-control study. SETTING: Infants born 1996-2001 in Norway. PARTICIPANTS: 377 infants with cleft lip with or without cleft palate; 196 infants with cleft palate alone; 763 controls. MAIN OUTCOME MEASURES: Association of facial clefts with maternal intake of folic acid supplements, multivitamins, and folates in diet. RESULTS: Folic acid supplementation during early pregnancy (> or =400 microg/day) was associated with a reduced risk of isolated cleft lip with or without cleft palate after adjustment for multivitamins, smoking, and other potential confounding factors (adjusted odds ratio 0.61, 95% confidence interval 0.39 to 0.96). Independent of supplements, diets rich in fruits, vegetables, and other high folate containing foods reduced the risk somewhat (adjusted odds ratio 0.75, 0.50 to 1.11). The lowest risk of cleft lip was among women with folate rich diets who also took folic acid supplements and multivitamins (0.36, 0.17 to 0.77). Folic acid provided no protection against cleft palate alone (1.07, 0.56 to 2.03). CONCLUSIONS: Folic acid supplements during early pregnancy seem to reduce the risk of isolated cleft lip (with or without cleft palate) by about a third. Other vitamins and dietary factors may provide additional benefit.


Assuntos
Fenda Labial/prevenção & controle , Fissura Palatina/prevenção & controle , Suplementos Nutricionais , Ácido Fólico/administração & dosagem , Cuidado Pré-Concepcional/métodos , Cuidado Pré-Natal/métodos , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Noruega , Gravidez , Vitaminas
17.
Am J Med Genet A ; 143A(2): 129-34, 2007 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-17163526

RESUMO

The prevalence of duplications and deletions of the 22q11.2 (DiGeorge syndrome) region was studied among babies born in Norway with open cleft palate without cleft lip (cleft palate only, CPO). During a 5-year period (1996-2001), there were 245 live births with CPO that were referred for surgery. DNA was available from 174 cases with overt cleft palate. DNA copy number was analyzed with the multiplex ligation-dependent probe amplification (MLPA) technique, and an unambiguous result was obtained in 169 (97%) of the samples. We found no 22q11.2 duplications, and one known, and two previously undiagnosed cases with 22q11.2 deletions. All three del22q11-syndrome cases also had heart malformations, which represent one-third of the 10 babies with heart malformations in our study population. The prevalence of del22q11-syndrome among babies with cleft palate with or without additional malformations was 1 of 57 (1.8%). Because the prevalence of CPO in the 35 22q11.2 duplication cases published was 20%, we also investigated if dup22q11-testing was warranted in this group. However, no 22q11.2 duplications were found, indicating that the duplication cases ascertained so far might not be representative of the dup22q11-group as a whole. We conclude that neither del22q11 nor dup22q11 testing is warranted in babies with overt cleft palate as the only finding.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Fissura Palatina/genética , Síndrome de DiGeorge/genética , Duplicação Gênica , Fissura Palatina/epidemiologia , Dosagem de Genes , Humanos , Lactente , Noruega/epidemiologia , Prevalência
18.
Artigo em Inglês | MEDLINE | ID: mdl-16298811

RESUMO

Chemical burns account for few admissions to burns units. A well-known but rare cause is wet cement. We present a case where a man had a full-thickness skin burn after contact with flagstones made of cement.


Assuntos
Queimaduras Químicas/etiologia , Compostos de Cálcio/efeitos adversos , Materiais de Construção/efeitos adversos , Óxidos/efeitos adversos , Pele/lesões , Queimaduras Químicas/cirurgia , Desbridamento , Humanos , Masculino , Pessoa de Meia-Idade , Transplante de Pele
19.
Cleft Palate Craniofac J ; 42(5): 501-11, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16149831

RESUMO

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.


Assuntos
Músculos Faríngeos/cirurgia , Faringe/cirurgia , Retalhos Cirúrgicos , Insuficiência Velofaríngea/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , Fissura Palatina/cirurgia , Endoscopia , Seguimentos , Humanos , Complicações Pós-Operatórias , Método Simples-Cego , Síndromes da Apneia do Sono/etiologia , Distúrbios da Fala/terapia , Inteligibilidade da Fala/fisiologia , Resultado do Tratamento
20.
Am J Epidemiol ; 162(5): 448-53, 2005 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-16076837

RESUMO

Cleft lip defects are usually regarded as a single entity, with the assumption that an accompanying cleft palate represents the more severe form. The authors linked data from the Medical Birth Registry of Norway with medical records from two centralized centers to provide a population-based data set. They assessed the distribution of cleft lip only and cleft lip with cleft palate by covariate. Among 1.8 million Norwegian livebirths between 1967 and 1998, there were 1,572 cases of cleft lip with cleft palate and 1,122 cases with cleft lip only. Seventeen percent of those with cleft lip and palate had another defect compared with 9% of those with cleft lip only. For boys, the risk was greater for cleft lip and palate than for cleft lip only (odds ratio=2.4 vs. 1.8, p<0.001 for difference). The risk of cleft lip only, but not of cleft lip and palate, was increased for twins (odds ratio=1.6 vs. 1.1, p=0.11) and infants whose parents were first cousins (odds ratio=2.7 vs. 0.7, p=0.07). Although cleft lip with cleft palate may simply represent a more severe form of the defect, epidemiologic assessments of cleft lip should, when possible, include separate analyses of these two groups.


Assuntos
Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Anormalidades Múltiplas/epidemiologia , Distribuição de Qui-Quadrado , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Modelos Logísticos , Masculino , Noruega/epidemiologia , Prevalência , Sistema de Registros , Fatores de Risco
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