ABSTRACT
No disponible
Subject(s)
Child, Preschool , Humans , Infant , Male , Colonic Polyps/physiopathology , Gastrointestinal Hemorrhage/etiology , Biomarkers/analysis , Feces/cytologyABSTRACT
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Subject(s)
Humans , Male , Child , Osteoarthropathy, Primary Hypertrophic/chemically induced , Osteoarthropathy, Primary Hypertrophic/complications , Osteoarthropathy, Primary Hypertrophic/diagnosis , Hodgkin Disease/diagnosis , Hodgkin Disease/nursing , Pharmaceutical Preparations/administration & dosage , Osteoarthropathy, Primary Hypertrophic/drug therapy , Osteoarthropathy, Primary Hypertrophic/rehabilitation , Osteoarthropathy, Primary Hypertrophic/therapy , Hodgkin Disease/complications , Pharmaceutical PreparationsABSTRACT
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
Subject(s)
Humans , Male , Child , Osteosarcoma/congenital , Osteosarcoma/complications , Osteosarcoma/diagnosis , Intellectual Disability/complications , Intellectual Disability/diagnosis , Osteosarcoma/drug therapy , Osteosarcoma/prevention & control , Intellectual Disability/genetics , Intellectual Disability/metabolism , Hypertelorism/complicationsABSTRACT
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.
Subject(s)
Bone Neoplasms/complications , Intellectual Disability/complications , Osteosarcoma/complications , alpha-Thalassemia/complications , Adolescent , Humans , MaleABSTRACT
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
Subject(s)
Humans , Adrenal Cortex Hormones/administration & dosage , Hyaline Membrane Disease/drug therapy , Respiratory Distress Syndrome, Newborn/prevention & control , Prenatal Diagnosis , Pulmonary Surfactants/administration & dosage , Respiratory Distress Syndrome, Newborn/drug therapy , Infant, Premature , ROC Curve , Retrospective StudiesABSTRACT
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Subject(s)
Humans , Female , Infant , Fructose Metabolism, Inborn Errors/diagnosis , Fructose Intolerance/diagnosis , Fructose/adverse effects , Transaminases/analysis , Vomiting/etiologyABSTRACT
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.
