Análise quantitativa do tempo de trânsito oral e faríngeo em síndromes genéticas / Quantitative analysis of oral and pharyngeal transit time in genetic syndromes

Objetivo Analisar, de forma quantitativa, o tempo de trânsito oral e faríngeo da deglutição em indivíduos com síndrome genética. Métodos Participaram 14 indivíduos com diagnósticos genéticos distintos, confirmados por exame clínico ou laboratorial, idade variando de 4 meses a 7 anos. Foi realizada análise de imagens videofluoroscópicas, por meio de software específico, dos tempos de trânsito oral e faríngeo. Após, realizou-se análise estatística descritiva e inferencial. Resultados Na análise do tempo de trânsito oral (TTO) com líquido constatou-se que dos 11 indivíduos avaliados, 7 apresentaram TTO normal, com média de tempo de 0,75 s e 4 apresentaram TTO alterado, com média de tempo de 5,42 s. Com a consistência pastosa, constatou-se 4 normais, com média de 1,12 s e 8 alterados, com média de 9,54 s. Quanto à análise do tempo de trânsito faríngeo (TTF) com líquido, 7 apresentaram seus valores normais, com média de 0,68 s, e 4 alterados, média de 3,74 s. Com a consistência pastosa, constatou-se 4 normais, média de 0,75 s e 8 apresentaram valores alterados, com média de 3,98 s. Conclusão Os tempos de trânsito oral e faríngeo nas síndromes genéticas estudadas podem ser normais ou alterados, sendo que, neste estudo, encontrou-se significância estatística nos tempos de trânsito apenas na consistência líquida. .

Purpose To measure the oral and pharyngeal transit time (OTT and PTT) in genetic syndromes. Methods Fourteen subjects, ranging in age from 4 months to 7 years, with different genetic diagnoses confirmed by clinical or laboratory examinations participated in this study. Real-time videofluoroscopic swallow study, and oral and pharyngeal transit times were analyzed using a specialized software. Descriptive and inferential statistical analyses were used. Results In the OTT analysis performed with liquid, of the 11 individuals evaluated, seven had normal OTT with an average of 0.75 s and four had altered OTT averaging 5.42 s. When swallowing a puree, four subjects showed normal OTT averaging 1.12 s and eight had altered OTT averaging 9.54 s. From the analysis of the PTT with liquid, seven had normal values averaging 0.68 s and four had altered PTT averaging 3.74 s. When swallowing a puree, four subjects had normal PTT averaging 0.75 s and eight had abnormal values averaging 3.98 s. Conclusion The oral and pharyngeal transit times may be normal or altered in the studied genetic syndromes. In this study, we found significant differences in transit times only in liquid consistency. .

Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family / Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family.

Gastrointestinal stromal tumors (GIST) are the most common mesenchymatous neoplasms of the human digestive tract. They locate preferentially in stomach, duodenum or small bowel. Usually sporadic, familial cases unrelated to neurofibromatosis may be due to germline mutations in KIT or PDGFRA. We describe the first Argentine family with GIST in which we found, diffuse cutaneous melanosis, lentiginosis, and dysphagia. Dysphagia was not observed in the four families previously described with the same mutation. Histopathology resulted consistent with GIST, and tumor immunohistochemistry was likewise positive for DOG-1, CD117 (KIT) and CD34. The search for germline mutations identified the KIT c.1697T > C (p.559V > A) substitution in exon 11. Treatment with imatinib is furnishing positive results.