Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 2 de 2
Filtrar
Más filtros

Banco de datos
Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
Front Endocrinol (Lausanne) ; 14: 1037398, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37396177

RESUMEN

Introduction: Narcolepsy Type 1 (NT1) is a rare hypersomnia of central origin linked to hypocretin deficiency, most frequently arising at pediatric age. NT1 could be associated with endocrine comorbidities involving the neuroendocrine axis, predominantly obesity, and Central Precocious Puberty (CPP). The primary aim of this study is the evaluation of endocrine and auxological parameters at diagnosis and during follow-up in patients with NT1, treated with Sodium Oxybate (SO) or not. Methods: We retrospectively evaluated the auxological, biochemical, and radiological parameters of 112 patients referred to our Center between 2004-2022. The design of our study is cross-sectional at the time of diagnosis followed by a longitudinal follow-up. Results: Our study confirms an increased frequency of CPP and obesity in patients with NT1. At first evaluation, obesity was found in 31.3% of patients, while overweight was found in 25.0%. A diagnosis of CPP was made in 19.6% of patients. Interestingly, this group showed a significantly lower level of CSF-hypocretin (hrct-1) at diagnosis compared to others. We found an improvement in BMI SDS in the SO-treated group compared to untreated patients, and this trend persisted also at 36 months of follow-up (0.0 ± 1.3 vs 1.3 ± 0.4; p<0.03). Sixty-three patients reached their final height, with a median SDS of 0.6 ± 1.1 in boys and 0.2 ± 1.2 in girls. Discussion: To our knowledge, these are the first results regarding the final height in a large series of pediatric patients with NT1, with a normal range of IGF1-SDS levels and stature SDS.


Asunto(s)
Narcolepsia , Oxibato de Sodio , Masculino , Femenino , Humanos , Niño , Orexinas , Estudios Retrospectivos , Estudios de Seguimiento , Estudios Transversales , Narcolepsia/tratamiento farmacológico , Narcolepsia/epidemiología , Narcolepsia/complicaciones , Obesidad/complicaciones
2.
Int J Pediatr Otorhinolaryngol ; 71(8): 1175-80, 2007 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-17532479

RESUMEN

OBJECTIVE: To compare the diagnostic effectiveness of Automated Auditory Brainstem Responses (MB11 technique) with that of standard Auditory Brainstem Responses (ABR) in a sample of newborns evaluated after the second month of life. METHODS: From October 2002 to February 2005, audiologic evaluations were performed in full-term newborns who presented altered otoacoustic emissions and in newborns considered at audiologic risk admitted to the ENT (Ear Nose Throat) Unit of Giannina Gaslini Institute, Genoa, Italy. Our sample included 201 children (104 males and 97 females) who underwent on the same day an audiologic test using MB11 BERAphone Maico and standard ABR test. RESULTS: Out of the 388 ears examined, 378 (97.4%) showed agreement between the two techniques, whereas in 10 (2.6%) there was no agreement. Interobserver agreement was excellent (kappa=0.92+/-0.02 S.E., p=0.0001). The MB11 test yielded no false negatives and 10 false positives which resulted normal at ABR. The MB11 test showed very good specificity 96.8% (95% CI 94.8-98.7%) and sensitivity 100% (95% CI 93.9-100%), positive predictive value 88.2% (95% CI 79-93.9%) and negative predictive value 100% (95% CI 98.4-100%) for diagnosis of hearing loss. CONCLUSIONS: The results obtained confirm the absolute validity of MB11 screening test in subjects at audiologic risk. Furthermore, the test can be used to esclude normal hearing subjects (threshold 40 dB HL) and to refer hearing loss subjects to subsequent ABR for diagnosis.


Asunto(s)
Potenciales Evocados Auditivos del Tronco Encefálico/fisiología , Trastornos de la Audición/diagnóstico , Trastornos de la Audición/epidemiología , Tamizaje Neonatal/métodos , Estimulación Acústica/instrumentación , Diseño de Equipo , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Variaciones Dependientes del Observador , Valor Predictivo de las Pruebas , Factores de Riesgo
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA