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1.
Eur J Pediatr ; 180(8): 2655-2668, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34143243

RESUMEN

Sleep problems are frequently reported in infants treated with propranolol for infantile hemangiomas, possibly serving as a marker for a negative impact on central nervous system function. In this cohort study, we objectively investigate the sleep behavior of infants with infantile hemangiomas on propranolol compared to a healthy, untreated control group. Sleep of propranolol-treated infants and controls was investigated using ankle actigraphy and a 24-h diary for 7-10 days at ages 3 and 6 months. The main outcome measures were the Number of Nighttime Awakenings and Sleep Efficiency. The main secondary outcome measures included 24-hour Total Sleep, daytime sleep behavior, and parent-rated infant sleep quality and behavioral development based on the Brief Infant Sleep Questionnaire (BISQ) and the age-appropriate Ages-and-Stages Questionnaire (ASQ), respectively. Fifty-four term-born infants were included in each cohort. No group difference in any investigated parameter was seen at age 3 months. At age 6 months, the propranolol group exhibited a decrease in Sleep Efficiency and a trend towards an increased Number of Nighttime Awakenings compared to the control group. Treated infants at 6 months also had shorter daytime waking periods. 24-hour Total Sleep was unaffected by propranolol. No negative impact of propranolol on subjective sleep quality and behavioral development was noted.Conclusion: Propranolol exerts a measurable yet mild impact on objectively assessed infants' sleep measures. Behavioral developmental scores were unaffected. Our results support propranolol as first-line therapy for complicated infantile hemangiomas. What is Known: • Sleep disorders are frequently reported in infants with infantile hemangiomas treated with propranolol and often lead to treatment discontinuation. • Investigations of the sleep pattern in this patient group using objective measures are lacking. What is New: • The sleep pattern of propranolol-treated infants is assessed using actigraphy and a 24-h sleep diary and compared to healthy, untreated controls. • Propranolol leads to a decreased sleep efficiency at night and an increased demand of daytime sleep, yet effects are mild overall.


Asunto(s)
Hemangioma , Neoplasias Cutáneas , Trastornos del Sueño-Vigilia , Antagonistas Adrenérgicos beta , Estudios de Cohortes , Humanos , Lactante , Propranolol/uso terapéutico , Sueño , Trastornos del Sueño-Vigilia/etiología , Resultado del Tratamiento
3.
Dermatology ; 229(2): 55-64, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25012694

RESUMEN

Human genodermatoses represent a broad and partly confusing spectrum of countless rare diseases with confluent and overlapping phenotypes often impeding a precise diagnosis in an affected individual. High-throughput sequencing techniques have expedited the identification of novel genes and have dramatically simplified the establishment of genetic diagnoses in such heterogeneous disorders. The precise genetic diagnosis of a skin disorder is crucial for the appropriate counselling of patients and their relatives regarding the course of the disease, prognosis and recurrence risks. Understanding the underlying pathophysiology is a prerequisite to understanding the disease and developing specific, targeted or individualized therapeutic approaches. We aimed to create a comprehensive overview of human genodermatoses and their respective genetic aetiology known to date. We hope this may represent a useful tool in guiding dermatologists towards genetic diagnoses, providing patients with individual knowledge on the respective disorder and applying novel research findings to clinical practice.


Asunto(s)
Pruebas Genéticas/métodos , Enfermedades Cutáneas Genéticas/genética , Genotipo , Humanos , Fenotipo , Enfermedades Cutáneas Genéticas/diagnóstico
5.
Pediatr Infect Dis J ; 31(7): 769-71, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22517339

RESUMEN

Voriconazole is used in antifungal prophylaxis. We performed a retrospective review of immunocompromised children receiving prophylaxis with voriconazole during major hospital renovation, who developed phototoxic skin reactions. The overall incidence of phototoxic skin reactions was 33%. A voriconazole dose of ≥6 mg/kg of body weight per dose twice daily was associated with a significantly greater risk to develop phototoxic skin reactions compared with lower doses.


Asunto(s)
Quimioprevención/efectos adversos , Quimioprevención/métodos , Dermatitis Fototóxica/epidemiología , Pirimidinas/administración & dosificación , Pirimidinas/efectos adversos , Triazoles/administración & dosificación , Triazoles/efectos adversos , Niño , Preescolar , Femenino , Humanos , Huésped Inmunocomprometido , Incidencia , Lactante , Masculino , Micosis/prevención & control , Neoplasias/complicaciones , Neoplasias/tratamiento farmacológico , Estudios Retrospectivos , Medición de Riesgo , Voriconazol
6.
Curr Opin Pediatr ; 23(6): 647-52, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-21970829

RESUMEN

PURPOSE OF REVIEW: Recent published work on atopic dermatitis focusing on the pathogenesis and epidemiology, which have a direct effect on treatment, is presented. RECENT FINDINGS: Worldwide, the incidence of atopic dermatitis is still increasing, although a plateau seems to be reached in certain industrialized countries. In addition to the filaggrin missense mutations, other mechanisms responsible for impaired skin-barrier function have been identified. These findings have a direct impact on therapy as well as behavior strategies. The barrier defect and the resulting inflammation in the skin, in particular interleukin (IL)-17-mediated responses, play an important role in promoting allergic airway responses and food allergy. SUMMARY: These recent findings on epithelial barrier defects, as well as cells and cytokines important for atopic dermatitis development, provide new insights into its pathogenesis, help to characterize patient subgroups, and identify new therapeutic strategies.


Asunto(s)
Antiinflamatorios/uso terapéutico , Citocinas , Dermatitis Atópica , Inmunidad Innata , Citocinas/antagonistas & inhibidores , Citocinas/inmunología , Citocinas/metabolismo , Dermatitis Atópica/tratamiento farmacológico , Dermatitis Atópica/inmunología , Dermatitis Atópica/metabolismo , Proteínas Filagrina , Humanos , Pronóstico
7.
Cancer Immunol Immunother ; 60(11): 1553-64, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21681371

RESUMEN

PURPOSE: A phase I study was conducted to investigate the safety, tolerability, and immunological responses to vaccination with a combination of telomerase-derived peptides GV1001 (hTERT: 611-626) and p540 (hTERT: 540-548) using granulocyte-macrophage colony-stimulating factor (GM-CSF) or tuberculin as adjuvant in patients with cutaneous melanoma. EXPERIMENTAL DESIGN: Ten patients with melanoma stages UICC IIb-IV were vaccinated 8 times intradermally with either 60 or 300 nmole of GV1001 and p540 peptide using GM-CSF as adjuvant. A second group of patients received only 300 nmole GV1001 in combination with tuberculin PPD23 injections. HLA typing was not used as an inclusion criterion. Peptide-specific immune responses were measured by delayed-type hypersensitivity (DTH) reactions, in vitro T cell proliferation assays, and cytotoxicity (51-Chromium release) assays for a selected number of clones subsequently generated. RESULTS: Vaccination was well tolerated in all patients. Peptide-specific immune response measured by DTH reactions and in vitro response could be induced in a dose-dependent fashion in 7 of 10 patients. Cloned T cells from the vaccinated patients showed proliferative responses against both vaccine peptides GV1001 and p540. Furthermore, T cell clones were able to specifically lyse p540-pulsed T2 target cells and various pulsed and unpulsed tumor cell lines. CONCLUSION: These results demonstrate that immunity to hTERT can be generated safely and effectively in patients with advanced melanoma and therefore encourage further trials.


Asunto(s)
Vacunas contra el Cáncer/uso terapéutico , Melanoma/terapia , Fragmentos de Péptidos/inmunología , Fragmentos de Péptidos/uso terapéutico , Neoplasias Cutáneas/tratamiento farmacológico , Telomerasa/inmunología , Telomerasa/uso terapéutico , Adulto , Anciano , Secuencia de Aminoácidos , Vacunas contra el Cáncer/efectos adversos , Vacunas contra el Cáncer/inmunología , Femenino , Humanos , Masculino , Melanoma/inmunología , Melanoma/patología , Persona de Mediana Edad , Datos de Secuencia Molecular , Fragmentos de Péptidos/efectos adversos , Neoplasias Cutáneas/inmunología , Neoplasias Cutáneas/patología , Telomerasa/efectos adversos
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