RESUMEN
BACKGROUND: Variants in sodium channel genes (SCN) are strongly associated with epilepsy phenotypes. Our aim in this study to evaluate the genotype and phenotype correlation of patients with SCN variants in our tertiary care center. METHODS: In this retrospective study, patients with SCN variants and epilepsy who were followed up at our clinic between 2018 and 2022 were evaluated. Our study discussed the demographics of the patients, the seizure types, the age of seizure onset, the SCN variants, the domains and the functions of the variants, the magnetic resonance imaging findings, the motor, cognitive, and psychiatric comorbidities, and the response to anti-seizure medication. Genetic testing was conducted using a next-generation sequencing gene panel (epilepsy panel) or a whole-exome sequencing. For evaluating variant function, we used a prediction tool (https://funnc.shinyapps.io/shinyappweb/ site). To assess protein domains, we used the PER viewer (http://per.broadinstitute.org/). RESULTS: Twenty-three patients with SCN variants and epilepsy have been identified. Sixteen patients had variants in the SCN1A, six patients had variants in the SCN2A, and one patient had a variant in the SCN3A. Two novel SCN1A variants and two novel SCN2A variants were identified. The analysis revealed 14/23 missense, 6/23 nonsense, 2/23 frameshift, and 1/23 splice site variants in the SCN. There are seven variants predicted to be gain-of-function and 13 predicted to be loss-of-function. Among 23 patients; 11 had Dravet Syndrome, 6 had early infantile developmental and epileptic encephalopathy, three had genetic epilepsy with febrile seizures plus spectrum disorder, one had self-limited familial neonatal-infantile epilepsy, one had self-limited infantile epilepsy and one had infantile childhood development epileptic encephalopathy. CONCLUSION: Our cohort consists of mainly SCN1 variants, most of them were predicted to be loss of function. Dravet syndrome was the most common phenotype. The prediction tool used in our study demonstrated overall compatibility with clinical findings. Due to the diverse clinical manifestations of variant functions, it may assist in guiding medication selection and predicting outcomes. We believe that such a tool will help the clinician in both prognosis prediction and solving therapeutic challenges in this group where refractory seizures are common.
Asunto(s)
Epilepsia , Fenotipo , Centros de Atención Terciaria , Humanos , Femenino , Masculino , Niño , Epilepsia/genética , Preescolar , Adulto , Adolescente , Estudios Retrospectivos , Adulto Joven , Canales de Sodio Activados por Voltaje/genética , Lactante , Estudios de Asociación Genética , MutaciónRESUMEN
OBJECTIVE: This study was conducted to investigate whether there is any difference between tonsillar surface and deep tissue cultures in patients who underwent tonsillectomy for recurrent tonsillitis. METHODS: Tonsillar surface and core tonsillar cultures were taken in all patients. The samples were inoculated into 5% sheep blood, chocolate, and MacConkey agar. The bacteria isolated were identified by using standard methods as well as API kits (Bio Mérieux) if necessary. RESULTS: Pathogenic bacteria were isolated in 77 patients, and no pathogenic bacteria were recovered in 39 of 116 patients included in the study. Of these 77 patients, in 52 patients, different types of bacteria were recovered from the surface and deep tissue cultures, whereas in 25 patients, the same types of bacteria were isolated from both surface and deep tissue cultures. The estimated probabilities of tonsillar bacteriology via surface swabs for Haemophilus influenzae, Staphylococcus aureus, Streptococcus pneumoniae, and group A beta-hemolytic streptococci were 27.2%, 38.4%, 66.6%. and 62.5%, respectively. H influenzae was less frequently predicted by surface culture than others. CONCLUSIONS: We think that the swab cultures taken from the tonsillar surface may not always reveal the real pathogen of the tonsils. In addition, the estimated probability of tonsillar bacteriology by surface swabs varies with the type of the pathogen. If medical therapy is planned on the basis of the tonsillar surface culture, then antibiotics also effective against H influenzae besides the target microorganisms may be chosen.
Asunto(s)
Antiinfecciosos/uso terapéutico , Tonsilitis/tratamiento farmacológico , Tonsilitis/microbiología , Adolescente , Adulto , Niño , Preescolar , Femenino , Infecciones por Haemophilus/diagnóstico , Infecciones por Haemophilus/tratamiento farmacológico , Haemophilus influenzae/aislamiento & purificación , Humanos , Masculino , Recurrencia , Infecciones Estafilocócicas/diagnóstico , Infecciones Estafilocócicas/tratamiento farmacológico , Staphylococcus aureus/aislamiento & purificación , Infecciones Estreptocócicas/diagnóstico , Infecciones Estreptocócicas/tratamiento farmacológico , Streptococcus pneumoniae/aislamiento & purificación , Tonsilectomía , Tonsilitis/cirugíaRESUMEN
OBJECTIVES: To explore the actual prevalence of vocal nodules among school age children. METHODS: A total of 617 children aged from 7 to 16 years were examined. Their voices were recorded and analyzed by using acoustic analysis techniques, and vocal folds were examined by using rigid telescopic laryngoscope. The findings were noted as normal, minimal lesion, immature and mature nodules. RESULTS: Laryngoscopic examination revealed that 430 (69.7%) of the children were normal. Of the remaining 187 children, 82 (13.3%) had minimal lesion, 88 (14.3%) immature nodule, 16 (2.6%) mature nodule and 1 (0.2%) vocal polyp. Comparisons of acoustic parameters revealed that there were no statistically significant differences between normal and minimal lesion groups, and between immature and mature nodule groups. Actual vocal nodule ratios which include both immature and mature nodule groups among whole school children were found to be 21.6% in males and 11.7% in females.