Résumé
Foreign body aspiration is most likely to occur in children and in adults aged above 60 years, causing a respiratory emergency, such as airway closure. It is diagnosed based on a history of aspiration, presenting symptoms, and radiographic findings. The treatment may include removal of the foreign body via bronchoscopy or surgery. Here, we report a rare case of bronchial aspiration of a foreign body, confirmed with clinical and radiographic examinations, in a 57-year-old patient. The patient was transferred for treatment; however, spontaneous passage of the foreign body to the gastrointestinal tract led to its removal from the bronchus.
Sujets)
Adulte , Enfant , Humains , Adulte d'âge moyen , Bronches , Bronchoscopie , Urgences , Corps étrangers , Tube digestif , Inhalation bronchiqueRésumé
BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. METHODS: We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). RESULTS: The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. CONCLUSIONS: On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
Sujets)
Humains , Délétion de segment de chromosome , Lissencéphalies classiques et hétérotopies laminaires sous-corticales/génétique , Syndrome de DiGeorge/génétique , Hybridation fluorescente in situ/méthodes , Laboratoires hospitaliers , Déficience intellectuelle/diagnostic , Techniques d'amplification d'acides nucléiques/méthodes , Syndrome de Prader-Willi/génétique , Syndrome de Williams/génétiqueRésumé
No abstract available.
Sujets)
Animaux , Rats , Microscopie électronique , Fibres musculaires squelettiques , Muscles squelettiquesRésumé
No abstract available.