Short Femur in the Second Trimester Scan Is Related to Maternal Preeclampsia and Small for Gestational Age Newborns.

OBJECTIVE: To determine the contribution of short femur diaphysis length (FDL) at 19-22 weeks of gestation in the prediction of adverse pregnancy outcomes. METHODS: The study included singleton pregnant women who underwent a routine anomaly scan at 19-22 weeks of gestation at the Virgen de la Arrixaca University Clinical Hospital (Murcia, Spain) between August 2011 and August 2012. Fetal biometry and Doppler ultrasound of uterine arteries were assessed as part of the anomaly scan, and the mean pulsatility index of both uterine arteries was recorded. Maternal obstetric characteristics, such as ethnicity, age, weight, parity, cigarette smoking, and medical history including hypertension and diabetes mellitus were collected from our database system. RESULTS: A total of 6,366 women were included in the study after excluding cases with abnormal karyotype, major fetal abnormalities, or termination of pregnancy. There were 88 cases of preeclampsia (PE) (1.4%). Logistic regression was performed including maternal and fetal characteristics. Short FDL at 19-22 weeks was significantly associated with subsequent development of PE (OR = 0.89, 95% CI: 0.80-0.99, p = 0.025). The best model to predict PE from our sample included gestational age at scan, parity, maternal weight, chronic hypertension, mean pulsatility index in the uterine arteries, and FDL (AUC = 0.78, 95% CI: 0.71-0.84). Regarding small for gestational age (SGA) neonates, there were also significant differences in FDL and FDL <5th centile between the control group and SGA newborns below the 3rd, 5th, and 10th centile. In the groups of preterm births (delivery before 32, 34, and 37 weeks), there were no differences in FDL compared with the control group (term births). DISCUSSION: Our results suggest that FDL at 19-22 weeks of gestation is an independent predictor of PE and SGA newborns.

Hallazgo casual mediante array de polimorfismo de nucleótido simple. Síndrome de Warkany / Casual finding using single nucleotide polymorphisms arrays: warkany syndrome

Introducción: La trisomía del cromosoma 8, conocida como síndrome de Warkany, es una rara enfermedad genética que cursa con un fenotipo muy variable. Su principal característica clínica es la discapacidad intelectual, facies dismórficas y pliegues plantares profundos. Presentamos el caso de un paciente de 10 años de edad, con facies gargoloides, retraso mental y rigidez en las articulaciones. El estudio inicial del cariotipo, en el que se analizaron 20 metafases, fue normal. Se solicitó array de polimorfismos de nucleótido único (SNPs) al laboratorio. Resultados: Se detectó una ganancia completa del cromosoma 8, que se interpretó como una trisomía 8 en mosaico de aproximadamente un 20%, y que era compatible con la clínica que presentaba el paciente. Discusión: Este caso muestra las limitaciones que tiene el análisis de solo 20 metafases en el cariotipo en pacientes con aneuploidías en mosaico. En estos casos estaría recomendado ampliar el estudio a al menos 30 metafases de cara a detectar mosaicismos en baja proporción

Introduction: Chromosome 8 trisomy, known as Warkany syndrome, is a rare genetic disease that has a very variable phenotype. Its main clinical characteristic is intellectual disability, dysmorphic facies, and deep plantar folds. The case is presented of a 10-year-old patient with gargoyle-like facies, mental retardation, and joint stiffness. The initial study of the karyotype, in which 20 metaphases were analysed, was normal. A single nucleotide polymorphisms (SNPs) array was requested from the laboratory. Results: A complete gain of chromosome 8 was detected, which was interpreted as a mosaic trisomy 8 of approximately 20%, and which was compatible with the clinical presentation of the patient. Discussion: This case shows the limitations of the analysis of only 20 metaphases in the karyotype in patients with mosaic aneuploidies. In these cases it would be recommended to extend the study to at least 30 metaphases in order to detect mosaicisms in low proportion

Effects of delayed cord clamping on the third stage of labour, maternal haematological parameters and acid-base status in fetuses at term.

OBJECTIVE: To compare the time in the third stage of labour, differences in maternal hematologic parameters 48h after birth and acid-base status in the umbilical cord between the early cord clamping (ECC) and delayed cord clamping (DCC). STUDY DESIGN: 97 healthy pregnancies at term and a spontaneous vertex delivery at Clinic University Hospital "Virgen de la Arrixaca" (Murcia, Spain), were randomized to ECC group (<10s post-delivery) or to DCC group (2min post-delivery). Duration of the third stage of labour was measured. Samples for acid-base status were taken both from the umbilical artery and vein. Blood samples were taken from the mothers 48h after birth. RESULTS: No statistical differences were found in the time of the third stage of labour (p=0.35). No statiscally significant differences were found between the number of red cells (p=0.25), hemoglobin (p=0.08) or hematocrit (p=0.15) in mothers. Umbilical acid-base status or gas analysis did not show any differences between the two groups CONCLUSIONS: Delayed cord clamping does not affect significantly the time of the third stage of labour. It does not show either any effect on the hematological parameters in the mother 48h after birth.

Psicosis infantil secundaria a metilfenidato / Infantile psychosis secondary to methylphenidate

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Reacciones adversas cardiovasculares secundarias al tratamiento con metilfenidato / No disponible

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Agenesis of the corrugator supercilii: a benign condition.

We report 2 neonates with frontonasal masses. The frontonasal masses were only present while the neonates were crying. The rest of the general examination and the neurological examination of the neonates were normal. The first patient had an extensive neuroimaging evaluation that included skull radiograph, computed tomography (CT) and magnetic resonance imaging (MRI) of the brain, and ultrasound of the frontonasal mass. The second patient was evaluated with ultrasound of the frontonasal mass. The mother of the second patient had no frontonasal creases and was unable to frown. In both patients, the ultrasonographic studies revealed nonspecific soft tissue thickening in the region of the glabella only while crying. The ultrasonographic findings and the similarity between the mother's findings and those of adult patients receiving botulinum toxin injection to the corrugator supercilii muscle point to the absence of this muscle as the cause of the frontonasal mass in these patients.