RESUMEN
Gangliosides are important components of the membrane and are involved in many biological activities. St8sia5 is an α2,8-sialyltransferase involved in ganglioside synthesis, and has three isoforms. In this study, we analyzed the features of three isoforms, St8sia5-S, -M, and -L that had not been analyzed, and found that only St8sia5-L was localized in the Golgi, while the majority of St8sia5-M and -S were localized in the ER. The localization of Golgi of St8sia5 depended on the stem region. In addition, the incorporation of exogenous GD3 was upregulated only in St8sia5-L expressing cells. Taken together, the localization of St8sia5 is important for the activity of the enzyme.
Asunto(s)
Gangliósidos , Sialiltransferasas , Animales , Gangliósidos/metabolismo , Aparato de Golgi/metabolismo , Ratones , Isoformas de Proteínas/genética , Sialiltransferasas/genética , Sialiltransferasas/metabolismoRESUMEN
BACKGROUND: Preoperative diagnosis of salivary gland tumors (SGTs) by fine-needle aspiration (FNA) cytology is challenging. Next-generation sequencing (NGS)-based assays for somatic mutations have a great advantage in that a large number of genes can be analyzed simultaneously. Although NGS may have an enormous diagnostic potential in cytology, to our knowledge, the significance of NGS in SGT cytology remains to be clarified. METHODS: In this pilot study, we retrospectively examined 32 frozen SGT samples obtained at surgery (14 malignant and 18 benign). After the stored frozen tumor tissues were thawed, aspirate samples were obtained using 22-gauge needles and subjected to smear tumor samples and to DNA extraction for an NGS assay employing the Illumina AmpliSeq Cancer Hotspot Panel v2. The results were correlated to preoperative cytological diagnosis. RESULTS: The preoperative diagnoses obtained by FNA cytology included 23 negative lesions (no malignancy in 6 and benign tumor in 17) and nine positive lesions (suspicious for malignancy in 4 and malignancy in five), providing a sensitivity and a specificity of 9/14 (64%) and 18/18 (100%), respectively. The NGS assay detected somatic mutations in 10/14 malignant and 1/18 benign SGT cases, providing a sensitivity and a specificity of 71% and 94%, respectively. CONCLUSION: The NGS assay may be helpful for detecting the malignant potential in SGT cases and can be used as an ancillary test for SGT cytology.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Glándulas Salivales , Proyectos Piloto , Estudios Retrospectivos , Sensibilidad y EspecificidadRESUMEN
PURPOSE: To describe a patient with rhegmatogenous retinal detachment (RRD) who developed a giant tear of retinal pigment epithelium (RPE) after scleral buckling. PATIENT: A 64-year-old man with RRD underwent scleral buckling and cryoretinopexy on his right eye. RESULTS: A #506 silicone sponge was placed on the exit of the three vortex vein to seal retinal tears. On the 3 postoperative day, a choroidal detachment appeared, and on the 10 postoperative day, a large RPE developed at the posterior edge of the choroidal detachment. One month later, the entire retina was completely attached without any treatment. CONCLUSIONS: Ophthalmic surgeons should be aware that an RPE tear can be associated with choroidal detachment after scleral buckling.