ABSTRACT
Introducción: Este estudio describe la morbilidad y mortalidad de los recién nacidos de muy bajo peso (RNMBP) asistidos en las unidades neonatales del País Vasco y Navarra entre los años 2001-2006, y evalúa los factores que afectan a la mortalidad. Pacientes y métodos: Estudio descriptivo observacional de una cohorte de 1.318 RNMBP asistidos entre el año 2001 y 2006 en cinco hospitales del País Vasco y Navarra. Se recogieron un total de 37 variables incluidas en la base de datos de EuroNeoNet, que se refieren a factores perinatales de riesgo y protectores, características demográficas, días de ingreso, intervenciones, morbilidades y mortalidad. Resultados: Un 94% de las mujeres embarazadas recibieron cuidados prenatales y un 78,7% administración de esteroides prenatales, en ambos casos hubo un aumento significativo durante el periodo estudiado. El 42% de los embarazos fueron múltiples y en un 63% el parto fue por cesárea. La displasia broncopulmonar disminuyó de manera estadísticamente significativa de un 20 a un 15%. La incidencia de hemorragia intraventricular de grado III o IV fue de 7,5% y de leucomalacia periventricular de un 3,1%. Se diagnosticó infección vertical en un 4% de niños y sepsis o meningitis tardía en 25%, enterocolitis necrotizante en 9% y persistencia del conducto arterioso en el 14% de los niños. El tratamiento con indometacina o ibuprofeno disminuyó significativamente durante el estudio. La tasa bruta de mortalidad neonatal total, tardía y precoz se ha mantenido constante en este periodo de tiempo. La mortalidad neonatal inmediata mostró una tendencia descendente y una diferencia significativa por sexo, siendo esta mayor en los varones. Conclusión: Este estudio de base poblacional aporta información valiosa sobre variables resultado en UCIN y puede ayudar en el planteamiento de intervenciones que mejoren la calidad asistencial y disminuyan la morbilidad y mortalidad en estos neonatos de alto riesgo(AU)
Introduction: This study describes very low birth weight (VLBW) infant morbidity and mortality in Basque Country and Navarra neonatal units between the years 2001-2006, and evaluates the factors that affect the mortality. Patients and methods: A descriptive observational study of a cohort of 1,318 VLBW infants in neonatal units in five Basque Country and Navarra hospitals between 2001 and 2006. A total of 37 variables included in EuroNeoNet database were collected as regards, perinatal risk and protective factors, demographic characteristics, length of stay, interventions, morbidity and mortality. Results: A total of 94% of pregnant women received prenatal care and 78.7% antenatal steroids. In both cases there was a significant increase during the period studied. A total of 42% of pregnancies were multiple and in 63% delivery was by Caesarean section. Bronchopulmonary dysplasia statistically significantly decreased from 20% to 15%. The incidence of intraventricular haemorrhage grade III or IV was 7.5% and for periventricular leukomalacia it was 3.1%. Vertical infection was diagnosed in 4% of infants and sepsis or late meningitis in 25%, necrotizing enterocolitis in 9% and patent ductus arteriosus in 14% of the infants. The prophylactic or therapeutic treatment with indometacin or ibuprofen decreased significantly during the study. The overall rate of total, late and first day neonatal mortality was almost constant during this period of time. Nevertheless, the early neonatal mortality showed a decreasing trend and with a significant difference between sexes, being higher in males. Conclusion: This population-based study provides valuable information on clinical outcomes in NICUs, and may help in planning strategies to improve health care quality, and to reduce the morbidity and mortality in these neonates at high risk(AU)
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant Mortality , Infant, Low Birth Weight/physiology , Infant, Very Low Birth Weight/physiology , Indicators of Morbidity and Mortality , Cohort Studies , Mortality/statistics & numerical data , Sepsis/complications , Sepsis/mortalityABSTRACT
INTRODUCTION: This study describes very low birth weight (VLBW) infant morbidity and mortality in Basque Country and Navarra neonatal units between the years 2001-2006, and evaluates the factors that affect the mortality. PATIENTS AND METHODS: A descriptive observational study of a cohort of 1,318 VLBW infants in neonatal units in five Basque Country and Navarra hospitals between 2001 and 2006. A total of 37 variables included in EuroNeoNet database were collected as regards, perinatal risk and protective factors, demographic characteristics, length of stay, interventions, morbidity and mortality. RESULTS: A total of 94% of pregnant women received prenatal care and 78.7% antenatal steroids. In both cases there was a significant increase during the period studied. A total of 42% of pregnancies were multiple and in 63% delivery was by Caesarean section. Bronchopulmonary dysplasia statistically significantly decreased from 20% to 15%. The incidence of intraventricular haemorrhage grade III or IV was 7.5% and for periventricular leukomalacia it was 3.1%. Vertical infection was diagnosed in 4% of infants and sepsis or late meningitis in 25%, necrotizing enterocolitis in 9% and patent ductus arteriosus in 14% of the infants. The prophylactic or therapeutic treatment with indometacin or ibuprofen decreased significantly during the study. The overall rate of total, late and first day neonatal mortality was almost constant during this period of time. Nevertheless, the early neonatal mortality showed a decreasing trend and with a significant difference between sexes, being higher in males. CONCLUSION: This population-based study provides valuable information on clinical outcomes in NICUs, and may help in planning strategies to improve health care quality, and to reduce the morbidity and mortality in these neonates at high risk.
Subject(s)
Infant, Newborn, Diseases/epidemiology , Infant, Very Low Birth Weight , Female , Humans , Infant, Newborn , Infant, Newborn, Diseases/mortality , Male , Spain/epidemiology , Time FactorsABSTRACT
La forma clásica de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa (21-OHD) se debe a mutaciones del gen CYP21A2. La gran mayoría de los alelos deficientes muestran mutaciones que preexisten en un seudogen homólogo y localizado en tandem: CYP21A1. Los alelos se heredan de los padres portadores, y las mutaciones de novo en el transcurso de la gametogénesis o en el desarrollo fetal son excepcionales. Este artículo describe a una paciente afectada de 21-OHD clásico que presentó en su alelo materno la mutación de novo I172N en heterocigosis compuesta con la mutación grave R356W heredada del padre. La madre de la paciente resultó negativa en el estudio de mutaciones del gen CYP21A2. El estudio complementario de marcadores indirectos tipo microsatélite confirmó una segregación correcta de los alelos parentales. La mutación I172N (en heterocigosis compuesta con mutación nula) da lugar a un fenotipo muy característico neonatal virilizante que no asocia crisis de pérdida salina (AU)
The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting (AU)
Subject(s)
Humans , Female , Infant, Newborn , Mutation/genetics , Adrenal Hyperplasia, Congenital/diagnosis , Adrenal Hyperplasia, Congenital/genetics , Prenatal Diagnosis/methods , Prenatal Diagnosis/trends , Adrenal Hyperplasia, Congenital/complications , Adrenal Hyperplasia, Congenital/physiopathology , Histocompatibility/genetics , Histocompatibility Testing/methods , Histocompatibility TestingABSTRACT
The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring at the maternal allele (I172N) of a patient with a classical form of 21-hydroxylase deficiency, whose father was heterozygous for R356W. The mother did not carry the mutation. Microsatellite analyses confirmed a correct allelic segregation. The I172N mutation (in compound heterozygosity with a null mutation) gives rise to a virilizing phenotype not associated with salt-wasting.
Subject(s)
Adrenogenital Syndrome/genetics , Mutation , Steroid 21-Hydroxylase/genetics , Female , Humans , Infant, NewbornABSTRACT
The complete vascular rings, embryological anomalies of the aortic arch and great vessels, are frequently incidental findings, although patients with significant anomalies can present with upper airway and oesophagus compression, resulting in non-cardiac morbidity. The diagnostic needs high clinical suspicion. We describe six cases, with a mean age of two and a half months at diagnosis. The objective of our review is to describe the type of complete vascular ring (double aortic arch, right circumflex aortic arch and right aortic arch with aberrant left subclavian artery and left ligamentum arteriosus), the most common symptoms (respiratory symptoms including constant high-pitched, aggravated crying) and invasive and non-invasive diagnostic procedures (esophagograms, CT, MRI).
Subject(s)
Aorta, Thoracic/abnormalities , Aortic Arch Syndromes/diagnosis , Blood Vessels/abnormalities , Subclavian Artery/abnormalities , Aortic Arch Syndromes/pathology , Brachiocephalic Trunk/pathology , Bronchial Diseases/diagnosis , Constriction, Pathologic/pathology , Diagnosis, Differential , Female , Humans , Infant , Infant, Newborn , Male , Pulmonary Artery/abnormalities , Tracheal Diseases/diagnosisABSTRACT
Los anillos vasculares completos, anomalías en el desarrollo embrionario del arco aórtico y grandes vasos, son frecuentemente hallazgos casuales; sin embargo, pacientes con anomalías importantes pueden presentar compresión de la vía respiratoria alta y esófago, con la consiguiente morbilidad no cardíaca que esta patología conlleva. Dado que para su diagnóstico se requiere un alto índice de sospecha clínica, el objetivo de la descripción de estos seis casos con una edad media en el momento del diagnóstico de 2,5 meses, es revisar el tipo de anillo vascular completo (doble arco aórtico, arco aórtico derecho circunflejo y arco aórtico derecho con arteria subclavia izquierda aberrante y ligamento arterioso izquierdo), las manifestaciones clínicas más frecuentes (síntomas respiratorios incluyendo el estridor constante, exacerbado con el llanto), y los métodos diagnósticos invasivos y no invasivos utilizados (esofagograma, tomografía computarizada, resonancia magnética) (AU)
The complete vascular rings, embryological anomalies of the aortic arch and great vessels, are frequently incidental findings, although patients with significant anomalies can present with upper airway and oesophagus compression, resulting in non-cardiac morbidity. The diagnostic needs high clinical suspicion. We describe six cases, with a mean age of two and a half months at diagnosis. The objective of our review is to describe the type of complete vascular ring (double aortic arch, right circumflex aortic arch and right aortic arch with aberrant left subclavian artery and left ligamentum arteriosus), the most common symptoms (respiratory symptoms including constant high-pitched, aggravated crying) and invasive and non-invasive diagnostic procedures (esophagograms, CT, MRI) (AU)
Subject(s)
Humans , Male , Female , Infant , Aorta, Thoracic/abnormalities , Aorta, Thoracic , Radiography, Thoracic/methods , Embryonic and Fetal Development/genetics , Embryonic and Fetal Development/physiology , Magnetic Resonance Imaging/methods , Tomography, Emission-Computed/methodsABSTRACT
Se presenta el caso de un neonato de 28 días con un primer episodio séptico causado por estreptococo del grupo B, con manifestaciones asociadas de celulitis-adenitis mandibular. Tras un periodo de 50 días asintomático, el paciente padece un segundo episodio de sepis por estreptococo del grupo B. Dada la evolución recurrente, después del tratamiento antibiótico estándar, se decide efectuar quimioprofilaxis con rifampicina oral
The authors present the case of a 28-day-old infant with a first septic episode caused by group B streptococci associated with mandibular cellulitis-adenitis. After an asymptomatic period lasting 50 days, the patient presented a second episode of group B streptococcal sepsis. In view of the recurrent course, following standard antibiotic therapy, it was decided to give him chemotherapy with oral rifampicin
Subject(s)
Male , Infant, Newborn , Humans , Sepsis/complications , Streptococcal Infections/complications , Rifampin/therapeutic use , Sepsis/drug therapy , Streptococcus agalactiae/pathogenicity , Streptococcal Infections/drug therapy , Cellulite/microbiology , RecurrenceABSTRACT
A case of metatropic dysplasia is presented, stressing the utility of prenatal diagnosis.
Subject(s)
Osteochondrodysplasias , Female , Humans , Infant, Newborn , Osteochondrodysplasias/congenital , Osteochondrodysplasias/diagnosis , Prenatal DiagnosisSubject(s)
Haemophilus Infections/transmission , Haemophilus influenzae/isolation & purification , Respiratory Distress Syndrome, Newborn/microbiology , Female , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Complications , Prenatal Exposure Delayed Effects , Radiography, Thoracic , Respiration, Artificial , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/therapy , Risk Factors , Substance-Related DisordersSubject(s)
Ichthyosis/diagnosis , Keratosis/diagnosis , Humans , Ichthyosis/genetics , Ichthyosis/metabolism , Infant, Newborn , Keratosis/genetics , Keratosis/metabolism , Male , SyndromeABSTRACT
Chronic inflammatory diseases of the bowel are specially frequent in the adult, with peak incidence during adolescence and early adulthood. There are, however, increasing number of reports in the pediatric age group, mainly coming from anglosaxon countries although more recently also from countries of Southern Europe. Authors present a case of Crohn disease occuring in a child, with typical clinical, radiological and pathological features, since they are not aware of any report in the Spanish literature. Comments are made upon pathogenesis, clinical features and pathological findings and specially upon the treatment established in the present case in relation with the indications of other authors.
