[Early gender assignment in cases of genital ambiguity at birth].
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Biomedical subjects
Publications and source records attributed to J López Muñoz.
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OBJECTIVES: To quantify the number of inappropriate pediatric hospital admissions using the Pediatric Appropriateness Evaluation Protocol (pAEP), the causes of inappropriate admissions, and the clinical utility of the paep, as well as to detect deficiencies in the healthcare circuit in hospitalized pediatric patients. MATERIAL AND METHODS: A prospective, descriptive study was carried out in a sample of 236 pediatric admissions. We analyzed several items such as age, pAEP, factors associated with inappropriate admission, main and secondary diagnoses, the diagnostic tests motivating admission, and day of the week and month of admission. RESULTS: A total of 13.6 % (CI: 9.5 %-18 %) of pediatric admissions were inappropriate. The most frequent reasons for inappropriate admissions were diagnostic tests (2.5 %) and treatment (11 %) that could have been performed on an outpatient basis. Most (90.6 %) of the admissions deemed inappropriate by the pAEP were also considered inappropriate when evaluated by experienced pediatricians. CONCLUSIONS: Improvement of healthcare circuits could decrease inappropriate admissions (better coordination between primary care and hospitals and improved access from the emergency unit to the specialized pediatric outpatient service). The pAEP allows identification of inappropriate admissions and their causes, as well as detection of deficiencies in the healthcare circuit.
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OBJECTIVE: To design, carry out and assess a protocol for the early diagnosis of hearing loss based on the detection of evoked otoacoustic emissions (EOAE) in the neonatal period. MATERIALS AND METHODS: Five hundred twenty-five infants without risk factors for hearing loss were studied. A hearing screening protocol with EOAE was applied in the first 48 hours of life, with a second test on the fifth day of life, coinciding with phenylketonuria screening if the first test was negative. The diagnostic stage took place when the infants were aged 1 month. RESULTS: A total of 98.8 % of the program was completed. In the initial test, bilateral EOAE were obtained in 458 infants. When the EOAE were performed during the first 24 hours after birth, 72.5 % of newborns achieved a satisfactory result. This percentage rose to 93.6 %, 97.9 % and 94.7 % when the test was delayed until discharge on, respectively, the second, the fifth and subsequent days of age (p < 0.01). All the infants who did not achieve a satisfactory result in the first test underwent a second one. A total of 87.5 % of the newborns who had failed the test within the first 24 hours passed it when it was repeated at 48 hours, at the time of discharge. A third screening was necessary in seven infants (six on the fifth day of life and one, together with auditory brainstem response [ABR], on 30 days of age). One infant showed absence of EOAE in the left ear in the three tests, as well as a threshold above 70 dB to obtain the V wave in the ABR performed at 1 and 3 months of age and was diagnosed with unilateral moderate deafness, representing a prevalence of hearing loss of 1.9 % of live newborns in the general population in our environment. CONCLUSIONS: Universal hearing screening with EOAE is logistically and economically feasible. The use of a second test on the fifth day of age decreases the number of false positives, thus reducing economic cost and family anxiety, and improves recruitment, since it coincides with metabolic screening.
BACKGROUND: Serum transferrin receptor (sTfR) is a reliable tool for assessing functional iron status and erythropoietic activity in adults, but little is known about its role in children. OBJECTIVE: To evaluate sTfR concentrations in healthy children and age and sex-related variations. A further aim was to determine the relationship of these concentrations with other iron parameters and with erythropoietin. PATIENTS AND METHODS: Blood samples from 155 healthy children aged 1-10 years old were obtained to determine sTfR, iron status indices and erythropoietin. The sTfR/ferritin ratio and the sTfR-ferritin index (sTfR/log ferritin) were calculated. Iron deficiency and increased erythropoiesis were eliminated. RESULTS: Values of sTfR, the sTfR/ferritin ratio and the sTfR-F index were 1.94 0.41mg/L (95 % CI: 1.14-2.74 mg/L), 83 40.3 (95 % CI: 4-162) and 1.4 0.36 (95 % CI: 0.69-2.1) respectively. No significant sex-related differences were found. Children aged 1-2 years old showed the highest sTfR levels. sTfR was directly related to erythrocyte count (r: 0.17; p < 0,03), hemoglobin level (r: 0.16; p < 0.05) and total iron binding capacity (r: 0.258; p < 0,001). In the multiple linear regression analysis, the best predictors of sTfR concentrations were log erythropoietin (p < 0.016) and total iron binding capacity (p < 0.0001). CONCLUSIONS: sTfR concentrations are elevated in children due to increased iron requirements for growth. In healthy children sTfR concentrations are related to erythropoietic activity and intracellular iron requirements. The current data are useful as a standard reference for healthy children.
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To asses the possible role of prostaglandins in the fetoplacental circulation during delivery PGE and PGF2-alfa plasma levels were measured in the umbilical vessels of term newborns. The levels of PGF2-alfa in blood from the umbilical vein are significantly higher and more variable than in the umbilical artery; 83.38 +/- 78.05 pg/ml versus 43.28 +/- 5.32 pg/ml. PGE levels are also higher in the vein 114.73 +/- 25.16 pg/ml than in the artery 83.63 +/- 9.22 pg/ml. There was a statistically significant negative correlation between the arterial pH and PGE in the umbilical vein these results support the idea that the plasmatic umbilical prostaglandins are synthetized by the placenta the variability in the values obtained in venous umbilical blood may reflect the different times of ligation of the umbilical cord. A decrease in fetal pH may be the stimulus for the prostaglandin synthesis by the placenta.
One case of spongy degeneration of CNS in infancy is presented. Main clinical features were, complete failure of motor and mental development, sudden hypotonia and hyperreflexia, blindness and optic atrophy. Computed tomography demonstrated a decrease in white matter density of cerebral hemispheres. Histopathological studies confirmed clinical diagnosis of Canavan's disease and indicated presence of abnormal mitochondria in accordance with those reported in the literature.
BACKGROUND: Classical methods for newborn identification cannot establish a true biological nexus between mother and newborn, and hence they have been widely criticized. Therefore, a pilot study on a mother-infant genetic identification program (PROIGMI) has been started in order to ensure the determination of a biological relationship between mother and newborn in cases of vaginal delivery, caesarean birth or fetal autopsies. MATERIAL AND METHOD: In the delivery room and after informed consent, a total of 100 blood samples from mother/newborn couples were taken and deposited on clean and sterile paper supports. DNA from a total of 20 mother/newborn couples was studied by PCR techniques, being able to unequivocally establish the biological relationship in all cases, even when using minimal amounts of DNA. RESULTS: Blood samples collection does not show differences regarding the kind of birth (delivery, cesarean). The protocol used is easy and fast, and does not employ materials not known for health care professionals. Minimal amounts of blood yield enough DNA to obtain conclusive inclusion probabilities. CONCLUSIONS: The use of DNA allows to stablish the so called biological truth in cases of doubt or where necessary; with the use of medical protocols these studies can be completed in 6 to 8 hours using small amounts of DNA (5 microliters).