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1.
Int J Pediatr Otorhinolaryngol ; 124: 152-156, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31195309

RESUMO

BACKGROUND: Gorham-Stout disease (GSD) is a rare lymphatic disorder which results in bone destruction. Defects of the skull base are difficult to manage, we describe cases to better understand the disease and discuss treatment. METHODS: Retrospective study including all patients treated for GSD skull-base defects. Medical records, clinical, imaging and treatment data were studied. A systematic review of the literature included case reports of the diseases for further analysis. RESULTS: 6 patients (5 males, 1 female) were included. Mean age at diagnosis was 3.5 years (range 0-10). Follow-up was of 5.2 years. Patients were divided into Naso-temporal (NT) and Vertebro-temporal (VT) groups following anatomical location. NT patients (4 patients) all had petrous defects extending anteriorly, including sphenoid, ethmoidal and mandibular defects. They all had cerebro-spinal fluid leak (CSF) and recurrent meningitis (range from 3 to 7). Two of those patients had sequelae including deafness, paralysis and epilepsy. VT patients (2 patients) all had temporal, occipital bone and cervical vertebrae defects. None had CSF leaks but both died from medullar compression (preceded by tetraparesis in one case). Overall, five out of six patients had type I Chiari malformation. Interferon seemed to be the most efficient medical treatment. Surgery included petrectomy, endonasal surgery for CSF leak management and neurosurgery for medullar management but could not guarantee long-term effects. CONCLUSION: Main issues in skull base defects are CSF leaks and medullar compressions. Surgical treatment is necessary in both cases but can only be satisfactory if general medical treatment can stabilise the disease.


Assuntos
Osteólise Essencial/cirurgia , Base do Crânio , Malformação de Arnold-Chiari/complicações , Vazamento de Líquido Cefalorraquidiano/diagnóstico , Vazamento de Líquido Cefalorraquidiano/etiologia , Vazamento de Líquido Cefalorraquidiano/cirurgia , Criança , Pré-Escolar , Endoscopia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Procedimentos Neurocirúrgicos , Osteólise Essencial/complicações , Osteólise Essencial/diagnóstico por imagem , Estudos Retrospectivos
2.
Am J Hum Genet ; 101(6): 1006-1012, 2017 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-29198720

RESUMO

Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in ß-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the ß-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αß-heterodimer, consistent with a role in maintaining MT stability. Functional analysis in cultured cells overexpressing FLAG-tagged wild-type or mutant TUBB4B as well as in primary skin-derived fibroblasts showed that the mutant TUBB4B is able to fold, form αß-heterodimers, and co-assemble into the endogenous MT lattice. However, the dynamics of growing MTs were consistently altered, showing that the mutations have a significant dampening impact on normal MT growth. Our findings provide a link between sensorineural disease and anomalies in MT behavior and describe a syndromic LCA unrelated to ciliary dysfunction.


Assuntos
Amaurose Congênita de Leber/genética , Microtúbulos/genética , Tubulina (Proteína)/genética , Adulto , Sítios de Ligação/genética , Células Cultivadas , Criança , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Microtúbulos/metabolismo , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Células Fotorreceptoras/metabolismo , Tubulina (Proteína)/metabolismo , Sequenciamento Completo do Exoma
3.
J Craniomaxillofac Surg ; 44(12): 1984-1987, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27816417

RESUMO

INTRODUCTION: Septic arthritis of the temporomandibular joint (TMJ) is a rare condition known to result in significant morbidity if diagnosis is delayed. Acute otomastoiditis is a typical complication of acute otitis media but few cases of acute otomastoiditis complicated with TMJ arthritis have been reported in the international literature. Furthermore, otomastoiditis reports and studies rarely analyzed TMJ CT scans. The aim of this study was to determine the incidence of TMJ arthritis in acute otomastoiditis, based on the analysis of CT scans. MATERIALS AND METHODS: We conducted a prospective study from 2014 to 2015, including all consecutive pediatric patients admitted to the Pediatric Otolaryngology department for acute otomastoiditis. A craniofacial injected CT scan was performed in all patients. The imagery was prospectively blind analyzed by two independent investigators screening for the criteria of TMJ arthritis. Finally, during the long-term follow-up we noted the number of patients presenting a clinical TMJ ankylosis. RESULTS: We included 45 patients. The analysis showed 15 patients with TMJ effusion. Of those, 6 (13.33%) had an abscess and 2 clinical ankyloses. CONCLUSION: This study showed a high rate of TMJ arthritis complicating otomastoiditis. Our results demonstrate that systematic TMJ analysis in the CT scan of patients with otomastoiditis is essential.


Assuntos
Artrite Infecciosa/etiologia , Mastoidite/complicações , Transtornos da Articulação Temporomandibular/etiologia , Doença Aguda , Artrite Infecciosa/diagnóstico por imagem , Artrite Infecciosa/epidemiologia , Criança , Pré-Escolar , Feminino , Humanos , Incidência , Lactente , Masculino , Mastoidite/diagnóstico por imagem , Estudos Prospectivos , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Transtornos da Articulação Temporomandibular/epidemiologia , Tomografia Computadorizada por Raios X
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