Descripción de un caso: Hallazgos prenatales del síndrome de Silver-Russell / Case description: Prenatal sonographic features of Silver-Russell Syndrome

Introducción: El síndrome de Silver-Russell es un trastorno congénito que cursa con déficit de crecimiento intrauterino y posnatal, macrocefalia relativa, frente prominente, cara triangular, clinodactilia, asimetría esquelética, problemas de alimentación y bajo índice de masa corporal. Entre las causas genéticas más comunes se encuentran la hipometilación del alelo paterno en la región de control de impronta 1 (ICR1) localizado en 11p15.5 (50% de los casos) y la disomía uniparental materna en el cromosoma 7 (7-10%). Hallazgos clínicos: Presentamos el caso de una gestante de 29 años con un cribado de cromosomopatías de primer trimestre de bajo riesgo. En la ecografía selectiva, realizada con 20+4 semanas, se evidencia un crecimiento intrauterino restringido (CIR) precoz. Se realiza amniocentesis con QF-PCR, cariotipo y array-CGH normales. A las 31+3 semanas persiste CIR tipo I con un peso fetal estimado, circunferencia abdominal y longitud de fémur inferiores al percentil 1, siendo el diámetro biparietal y la circunferencial cefálica normales. Se evidencia prominencia frontal, facies pequeña y clinodactilia del quinto dedo de la mano derecha. A las 37 semanas nace mediante cesárea un varón de 1.410g. Diagnóstico, intervención terapéutica y resultados: A la exploración física destaca fenotipo peculiar sugestivo de síndrome de Silver-Russell. El estudio genético confirma hipometilación del ICR1 en la región 11p15.5. Se incluye iconografía del estudio ecográfico prenatal. Conclusión: Es importante llegar al diagnóstico de esta entidad y conocer la correlación genotipo-fenotipo para poder ofrecer las mejores opciones terapéuticas, un adecuado seguimiento y realizar asesoramiento genético familiar.(AU)

Introduction: Silver-Russell syndrome is a congenital disorder that causes prenatal and postnatal growth restriction, relative macrocephaly, prominent forehead, triangular facies, clinodactyly, body asymmetry, severe feeding difficulties, and low body mass index. The most common underlying mechanisms are hypomethylation of the paternal allele at the imprinting control region 1 (ICR 1) located at 11p15.5 (seen in 50% of patients) and maternal uniparental disomy for chromosome 7 (seen in 7%–10% of patients). Clinical findings: We present the case of a 29-year-old pregnant woman with low risk for chromosomal abnormalities at the first trimester screening. The 20-week ultrasound shows early intrauterine growth restriction (IUGR). We performed an amniocentesis with normal QF-PCR, foetal karyotype and array-CGH. Intrauterine growth restriction Type I persists at 31+4 weeks with estimated foetal weight, abdominal circumference, and femur length below the 1st centile. The biparietal diameter and head circumference centiles were normal. Prominent forehead, small face, and fifth finger clinodactyly of right hand were detected. At 37 weeks, a boy weighing 1,410g was born by caesarean section. Diagnosis, therapeutic intervention, and results: Physical examination revealed a peculiar phenotype suggestive of Silver-Russell syndrome. The genetic study confirmed hypomethylation of ICR1 in the 11p15.5 region. Prenatal ultrasound images are shown. Conclusions: It is important to diagnose this entity and determine genotype-phenotype correlations in order to provide the best therapeutic options, ensure adequate follow-up, and offer timely family genetic counselling.(AU)

Niveles séricos de PAPP-A y beta-hCG en el primer trimestre del embarazo como predictores de resultados obstétricos desfavorables en el Hospital Universitario Nuestra Señora de Candelaria / Serum levels of PAPP-A and beta-hCG in the first trimester of pregnancy as predictors of unfavourable obstetric outcomes at Hospital Universitario Nuestra Señora de Candelaria

Muchos estudios han documentado la asociación entre valores bajos de PAPP-A y β-hCG en el suero materno durante el primer trimestre, así como efectos materno-fetales adversos.Para valorar dicha relación, en nuestro medio se llevó a cabo un análisis retrospectivo de casos y controles anidado en una cohorte de pacientes con embarazo único en quienes se realizó el cribado del primer trimestre entre 2017 y 2018. Se consideraron casos aquellas pacientes con niveles de MoM PAPP-A y/o β-hCG iguales o inferiores al percentil 5, y como controles a una muestra aleatorizada de pacientes con niveles séricos por encima de dicho percentil.El análisis de nuestros resultados demostró que en los grupos con niveles bajos de MoM PAPP-A y MoM β-hCG se observó un mayor riesgo de desarrollar crecimiento intrauterino restringido que en el grupo control (OR: 2,7 y 3,17, respectivamente). En el grupo MoM PAPP-A≤p5 también se obtuvo un riesgo 3,8 veces superior de estados hipertensivos del embarazo (IC: 1,94-7,83) y 7,9 veces mayor de muerte fetal anteparto (IC:1,09-217,4). Estas dos variables no resultaron estadísticamente significativas en el grupo MoM β-hCG ≤p5.Nuestros hallazgos confirmaron que los niveles bajos de PAPP-A y β-hCG en el suero de las gestantes se asoció con un riesgo elevado de desarrollar complicaciones obstétricas, por lo que podrían utilizarse para la detección precoz de las mismas y prevención de malos resultados obstétricos.

Many studies have documented the association between low PAPP-A and β-hCG values in maternal serum during the first trimester and adverse maternal-foetal effects.To assess this relationship a retrospective analysis of cases and controls was carried out, based on a cohort of patients with a single pregnancy who underwent first-trimester screening between 2017 and 2018. For the group of cases, patients with MoM levels PAPP-A and/or β-hCG equal to or below the 5th percentile were selected. The control group was obtained by making a randomized selection of all patients with MoM PAPP-A levels and/or β-hCG above that percentile.The analysis of our results showed that in groups with low levels of MoM PAPP-A and MoM β- hCG, we observed a higher risk of developing restricted intrauterine growth than in the control group (OR: 2.7 and 3.17, respectively). In the MoM PAPP-A ≤p5 group we also obtained a 3.8-foldhigher risk of global hypertensive states of pregnancy (CI: 1.94-7.83) and 7.9-fold higher risk of antepartum foetal death (CI: 1.09- 217.4). These two variables were not statistically significant in the MoM β-hCG ≤p5 group.Our findings confirmed that low levels of PAPP-A and β-hCG in the serum of pregnant women are associated with a high risk of developing obstetric complications, so they could be used for their early detection and the prevention of poor obstetric results.

[A cross-sectional study of the impact of educational information on topical photoprotection habits in medical students]. / Estudio transversal sobre la repercusión de la información educativa en los hábitos de fotoprotección tópica en estudiantes de medicina.

OBJECTIVES: Skin cancer (melanoma and non-melanoma) is the most common cancer in humans, with melanoma being the most aggressive. Due to the fact that ultraviolet (UV) radiation exposure is the only adjustable aetiological factor, UV protection is the essential preventive measure. Based on these grounds, a study was conducted in order to compare three population groups with different levels of knowledge about UV protection, as well as to determine any differences in sun exposure habits, and the level of awareness of the damaging effects of the sun on the skin. MATERIALS AND METHODS: An observational, cross-sectional study was conducted using a questionnaire survey of 317 Spanish university students aged 18-25years old, between October and December 2015. Descriptive statistics methods and Pearson's Chi-squared were used. RESULTS: Six questions were used to evaluate the sun exposure habits. Significant differences were detected in two of them: mole self-assessment (P<.001) and the use of an appropriate sun protection factor (P=.025). Five questions were asked concerning the level of knowledge about UV protection, with differences (P<.001) being found in all cases. CONCLUSIONS: Despite having more knowledge about the risks of sun exposure in the medical dermatology students group, only two of the six habits questioned were improved. Other factors that could be involved are the aesthetic or sociocultural factors. The early prevention of skin cancer is essential, with health promotion programs needing to be established that take into account all these conditions.