RESUMO
Twin studies have been widely used to investigate genetic versus environmental causality of malformations. While there are numerous reports of concordant sutural fusions in syndromic twins, there are few cases in siblings with nonsyndromic single suture synostosis. Lambdoidal synostosis has no clear genetic etiology. Discordant synostosis has been reported in one monozygotic twin; there is also an unsubstantiated report of concordance in dizygotic twins. We describe dizygotic twins concordant for contralateral lambdoidal synostosis. Mutational analysis for FGFR 1,2,3 was negative. Given the low incidence, absence of reported inheritability, and lack of documented concordance in monozygotic twins, the pathogenesis of isolated lambdoidal fusion can only be ascribed to stochastic influences.
Assuntos
Craniossinostoses/genética , Gêmeos Dizigóticos , Doenças em Gêmeos , Feminino , Humanos , Lactente , Masculino , Osso Occipital/anormalidades , Osso Parietal/anormalidadesRESUMO
BACKGROUND: Lymphatic malformation of the tongue and floor of the mouth is associated with chronic airway problems, recurrent infection, and functional issues related to speech, oral hygiene, and malocclusion. There are no accepted anatomic guidelines or treatment protocols. METHODS: This retrospective review focused on anatomic extent, treatment, complications, and airway management in 31 patients with lymphatic malformation of the lingual base and oral floor. RESULTS: Involved adjacent structures included the neck (77 percent), mandible (41 percent), face (42 percent), lips (10 percent), pharynx (45 percent), and larynx (26 percent). Fifty-eight percent of patients required tracheostomy during infancy; decannulation was possible in two-thirds of these patients. Management included resection alone (42 percent), resection and sclerotherapy (26 percent), resection and laser coagulation (16 percent), sclerotherapy and laser coagulation (16 percent), and resection and radiofrequency ablation (3 percent). Resection involved the neck (58 percent), floor of the mouth (52 percent), and tongue (42 percent); there were often multiple procedures. Aspiration was tried with little success in 10 percent of patients. Virtually all patients had residual abnormal lymphatic tissue. Complications and posttherapeutic problems included infection (81 percent), neural damage (27 percent), difficulty in speech (23 percent), feeding problems (10 percent), and seroma or hematoma (6 percent). Associated dental/orthognathic conditions, particularly prognathism and anterior open bite, were documented in one-third of patients. CONCLUSIONS: The initial step in the protocol is control of the neonatal airway. Staged cervical resection is undertaken in late infancy to early childhood; resection should also include abnormal tissue in the oral floor. Sclerotherapy is primarily for macrocystic disease or secondarily for recurrent cysts following partial extirpation. Vesicles of the mucous membranes and dorsal tongue are treated either by sclerotherapy, laser (carbon dioxide, yttrium-aluminum-garnet, or potassium-titanyl-phosphate), or radiofrequency ablation. Reduction for macroglossia is indicated for persistent protrusion or to allow correction of malocclusion. Embolization controls lingual bleeding. Orthognathic procedures are undertaken at the appropriate age, only after lingual size and position are acceptable.
Assuntos
Anormalidades Linfáticas/terapia , Soalho Bucal/anormalidades , Língua/anormalidades , Ablação por Cateter , Criança , Terapia Combinada , Embolização Terapêutica , Feminino , Humanos , Lactente , Fotocoagulação a Laser , Anormalidades Linfáticas/complicações , Anormalidades Linfáticas/cirurgia , Masculino , Má Oclusão/etiologia , Soalho Bucal/cirurgia , Complicações Pós-Operatórias/epidemiologia , Prognatismo/etiologia , Estudos Retrospectivos , Escleroterapia , Língua/cirurgia , TraqueostomiaRESUMO
OBJECTIVE: The goals of this study were to assess U.S.-based American Cleft Palate-Craniofacial Association (ACPA) teams' use and perceived need for Spanish-language educational materials and to evaluate trends in number of Spanish-speaking patients treated. METHODS: A facsimile survey was sent to U.S.-based teams listed in the ACPA 1999 to 2000 and 2001 to 2002 Team Directories. Questions addressed demographics for Spanish-speaking patients/families and use of Spanish-language educational materials. Teams with a recent increase in Spanish speakers, 25% or more Spanish speakers, or both received a more in-depth follow-up survey. RESULTS: Response rate to the initial survey was 71%. Almost 16% of teams reported having greater than 25% primarily Spanish speakers. Forty-four percent of responders saw an increase in Spanish speakers over the past 5 years, and 41% of responders used Spanish-language materials of some type. Fifty-seven teams were sent a follow-up survey and 29 (51%) teams responded. Teams reported a need for more Spanish-language educational materials on specific craniofacial conditions, and many expressed frustration in communication and interaction with Spanish speakers. CONCLUSIONS: Many U.S.-based ACPA teams reported an increase in primarily Spanish speakers and expressed a need for more Spanish-language educational materials in different formats. Consideration of the diverse dialectic, cultural, and literacy needs of U.S. Spanish speakers can contribute to more effective educational efforts and improved care of the increasing number of Latinos treated by ACPA teams.
Assuntos
Barreiras de Comunicação , Anormalidades Craniofaciais , Hispânico ou Latino/estatística & dados numéricos , Idioma , Educação de Pacientes como Assunto , Coleta de Dados , Educação em Saúde Bucal , Humanos , Sociedades OdontológicasRESUMO
BACKGROUND AND AIM: Thalidomide is clinically effective in the treatment of graft versus host disease in bone marrow transplantation and aphthous ulceration in HIV infection. It appears to exert a selective effect on tumor necrosis factor-alpha (TNF-alpha) production. Tumor necrosis factor-alpha is implicated in the pathogenesis of inflammatory bowel disease (IBD). The aim of this study was to assess the efficacy and safety of thalidomide in symptomatic IBD. METHODS: Eleven patients (nine males, mean age 33 years, range 20-77 years) with chronic inflammatory bowel disease (six Crohn's disease (CD), four ulcerative colitis (UC), one indeterminate colitis (IC)) who were symptomatic despite standard medical therapy were administered a daily dose of thalidomide for 12 weeks in an open-labeled protocol. Their response was assessed by using clinical, colonoscopic, histological, and immunological methods. RESULTS: Two patients withdrew at 3 weeks because of mood disturbances. Of the remaining nine patients, eight (five CD, two UC and one IC) had a marked clinical response, while one patient with CD had no response. The mean stool frequency decreased from 4.3 to 2.3 per day (P = 0.0012), and the stool consistency increased from 2.1 to 1.2 (P = 0.02). The mean Crohn's Disease Activity Index decreased from 117 to 48 (P = 0.0008). Endoscopic inflammatory and histological grade, C-reactive protein and erythrocyte sedimentation rate (ESR) all decreased significantly (P = 0.011, P = 0.03, P = 0.023 and P = 0.044, respectively). However, the serum TNF-alpha levels did not change. Side-effects included mild sedation, xerostomia and skin dryness in all, constipation in three, and minor abnormalities in nerve conduction in one patient. CONCLUSION: These data strongly suggest that thalidomide is an effective short-term treatment for symptomatic IBD.