RESUMO
No disponible
Assuntos
Pré-Escolar , Humanos , Lactente , Masculino , Pólipos do Colo/fisiopatologia , Hemorragia Gastrointestinal/etiologia , Biomarcadores/análise , Fezes/citologiaRESUMO
No disponible
Assuntos
Humanos , Masculino , Criança , Osteoartropatia Hipertrófica Primária/induzido quimicamente , Osteoartropatia Hipertrófica Primária/complicações , Osteoartropatia Hipertrófica Primária/diagnóstico , Doença de Hodgkin/diagnóstico , Doença de Hodgkin/enfermagem , Preparações Farmacêuticas/administração & dosagem , Osteoartropatia Hipertrófica Primária/tratamento farmacológico , Osteoartropatia Hipertrófica Primária/reabilitação , Osteoartropatia Hipertrófica Primária/terapia , Doença de Hodgkin/complicações , Preparações FarmacêuticasRESUMO
El síndrome ATR-16 se debe a alteraciones en el cromosoma 16p13.3 y se caracteriza por -talasemia, retraso mental leve-moderado, rasgos faciales dismórficos, malformaciones genitourinarias y esqueléticas. No hay hasta el momento actual ninguna referencia bibliográfica sobre asociación con osteosarcoma. l osteosarcoma se presenta generalmente con un cariotipo complejo, caracterizado por un lto grado de heterogeneidad de aberraciones cromosómicas, entre las que ocasionalmente se ha encontrado la afectación del cromosoma 16. resentamos un caso clínico de un paciente con síndrome ATR-16 diagnosticado de osteosarcoma femoral
ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma
Assuntos
Humanos , Masculino , Criança , Osteossarcoma/congênito , Osteossarcoma/complicações , Osteossarcoma/diagnóstico , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Osteossarcoma/tratamento farmacológico , Osteossarcoma/prevenção & controle , Deficiência Intelectual/genética , Deficiência Intelectual/metabolismo , Hipertelorismo/complicaçõesRESUMO
ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma.
Assuntos
Neoplasias Ósseas/complicações , Deficiência Intelectual/complicações , Osteossarcoma/complicações , Talassemia alfa/complicações , Adolescente , Humanos , MasculinoRESUMO
Aunque se conoce la efectividad de la corticoterapia materna para la maduración pulmonar fetal en prematuros, no hay seguridad acerca del tiempo en que el tratamiento continúa siendo efectivo. Realizamos un estudio descriptivo y longitudinal, para relacionar el tiempo transcurrido desde la administración de glucocorticoides maternos, y la necesidad o no de surfactante, y a partir de qué punto se debería considerar la repetición de las dosis de corticoides maternos. Se incluyeron 91 prematuros de ≤32 semanas y/o ≤1.500g (límite 34+6 semanas) cuyas madres habían recibido una pauta completa de corticoides. En los pacientes de 27-34+6 semanas, comprobamos que a mayor tiempo transcurrido entre el parto y la administración de corticoides, mayor probabilidad de necesitar tratamiento con surfactante (p=0,027). La curva ROC calculada determinó un punto de corte de 8 días a partir del cual debería valorarse el repetir la dosis de corticoide
The effectiveness of antenatal corticosteroid therapy for foetal lung maturation in pre-term infants is well known, but there is uncertainty about the time that the treatment remains effective. A descriptive, longitudinal study was conducted to determine whether the need for surfactant administration was determined by the time-lapse between corticosteroids administration and delivery, and when repeating the doses of maternal corticosteroids should be considered. A total of 91 premature infants ≤32 weeks and/or ≤1,500 g (limit 34+6 weeks) whose mothers had received a complete course of corticosteroids were included. In patients at 27-34+6 weeks, we found that the longer the time elapsed between delivery and administration of corticosteroids, most likely were the babies to require treatment with surfactant (P=.027). The resulting ROC curve determined an 8-days cut-off after which repeating a dose of corticosteroids should be assessed
Assuntos
Humanos , Corticosteroides/administração & dosagem , Doença da Membrana Hialina/tratamento farmacológico , Síndrome do Desconforto Respiratório do Recém-Nascido/prevenção & controle , Diagnóstico Pré-Natal , Surfactantes Pulmonares/administração & dosagem , Síndrome do Desconforto Respiratório do Recém-Nascido/tratamento farmacológico , Recém-Nascido Prematuro , Curva ROC , Estudos RetrospectivosRESUMO
No disponible
Assuntos
Humanos , Feminino , Lactente , Erros Inatos do Metabolismo da Frutose/diagnóstico , Intolerância à Frutose/diagnóstico , Frutose/efeitos adversos , Transaminases/análise , Vômito/etiologiaRESUMO
The effectiveness of antenatal corticosteroid therapy for foetal lung maturation in pre-term infants is well known, but there is uncertainty about the time that the treatment remains effective. A descriptive, longitudinal study was conducted to determine whether the need for surfactant administration was determined by the time-lapse between corticosteroids administration and delivery, and when repeating the doses of maternal corticosteroids should be considered. A total of 91 premature infants ≤32 weeks and/or ≤1,500 g (limit 34+6 weeks) whose mothers had received a complete course of corticosteroids were included. In patients at 27-34+6 weeks, we found that the longer the time elapsed between delivery and administration of corticosteroids, most likely were the babies to require treatment with surfactant (P=.027). The resulting ROC curve determined an 8-days cut-off after which repeating a dose of corticosteroids should be assessed.