BackgroundIn treating juvenile-onset laryngeal papillomatosis, the most difficult aspect is preventing recurrence. After a single treatment, recurrence can begin after as soon as 20 days and the recurrent rate can be higher than 90%. The causes of recurrence include the presence of mucosal cells infected with papilloma virus, which are undetectable with the naked eyes, and surgery-induced infection. Photodynamic therapy (PDT) could effectively solve this problem. Virus-infected cells have a very high metabolic energy for capturing and internalizing the photosensitizer, which, after light stimulation, subsequently induces active oxygen species inside the nucleus, which kill infected cells. The second generation of photosensitizer agents (PA) are locally applied to avoid the intravenous systemic damage caused by first-generation PAs, and this method is widely used for the treatment of genital warts to very good effect.MethodsWe used the photodynamic method to treat laryngeal papillomatosis in children and obtained significant efficacy. We followed three juvenile subjects with recurrent laryngeal papillomatosis through a course of treatment (each course includes three PDT sessions), with a follow-up after 6 months.ResultsThe characteristic procedures involve exposing the larynx with a laryngoscope and using low-temperature plasma technology to visualize the tumor resection, as the effects of plasma technology can reduce postoperative laryngeal edema and reduce intraoperative metastasis. PDT was performed during the first surgery, 20 days after and 30 days after surgery. At the 6-month follow-ups, there was no recurrence.ConclusionThis was the world's first successful reported case of the use of PDT treatment for juvenile laryngeal papillomatosis.
Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. FS is a self-limited type of fever-related seizure. However, complicated prolonged FS can lead to complex partial epilepsy. We found that among the GABAA receptor subunit (GABR) genes, most variants associated with FS are harbored in the γ2 subunit (GABRG2). Here, we characterized the effects of eight variants in the GABAA receptor γ2 subunit on receptor biogenesis and channel function. Two-thirds of the GABRG2 variants followed the expected autosomal dominant inheritance in FS and occurred as missense and nonsense variants. The remaining one-third appeared as de novo in the affected probands and occurred only as missense variants. The loss of GABAA receptor function and dominant negative effect on GABAA receptor biogenesis likely caused the FS phenotype. In general, variants in the GABRG2 result in a broad spectrum of phenotypic severity, ranging from asymptomatic, FS, genetic epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome individuals. The data presented here support the link between FS, epilepsy, and GABRG2 variants, shedding light on the relationship between the variant topological occurrence and disease severity.
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