ANTIÑOLO GIL , Guillermo

Objetivos: reportar el caso de una paciente con diagnóstico prenatal de atresia de yeyuno y hacer una revisión de la literatura en torno al resultado y al diagnóstico de esta entidad, implementando el uso de métodos no convencionales: ecografía tridimensional (3D) o resonancia magnética fetal (RM). Materiales y métodos: se reporta el caso de...

Background There is no agreement on the effect of planned mode of delivery in the perinatal morbidity and neurodevelopment in uncomplicated monochorionic diamniotic as well as regarding the safest mode of delivery. In this paper we have aimed to analyze the impact of the mode of delivery in uncomplicated monochorionic diamniotic twins ≥ 32...

A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography conformed...

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the...

Background: Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality. Case presentation: We report a case of giant chorioangioma with fetal hydrops, additionally complicated by severe anemia, mild cardiomegaly with hyperdinamic heart circulation and maternal mirror syndrome....

Background: The "Ex-Utero Intrapartum Treatment" (EXIT) procedure allows to ensure fetal airway before completion of delivery and umbilical cord clamping while keeping uteroplacental circulation. Airway obstruction in fetal oropharyngeal and cervical masses can be life-threatening at birth. In those situations, controlled access to fetal airway...

Fetal dysrhythmias are reported in approximately 1-2% of all pregnancies and are a relatively common reason for referral to fetal medicine centers1-3. Fetal tachycardia is a serious condition in which the fetus is at risk of congestive heart failure and the subsequent development of hydrops1-4. This situation is associated with significant...

Sistema de análisis y gestión de imágenes quirúrgicas.Se describe un sistema de análisis y gestión de imágenes quirúrgicas que permite monitorizar y registrar en tiempo real toda la actividad de un quirófano o entorno médico-quirúrgico complejo mediante l

Sistema de análisis y gestión de imágenes quirúrgicas.Se describe un sistema de análisis y gestión de imágenes quirúrgicas que permite monitorizar y registrar en tiempo real toda la actividad de un quirófano o entorno médico-quirúrgico complejo mediante l

Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with unexpected electrophysiological findings. Here, we report a Spanish 11-month-old patient with spinal muscular atrophy type 2 and...

This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP (arRP) and one with two possible modes of inheritance: arRP or X-Linked RP (XLRP). We performed whole exome sequencing (WES) using...

Background: Molecular diagnosis of Inherited Retinal Dystrophies (IRD) has long been challenging due to the extensive clinical and genetic heterogeneity present in this group of disorders. Here, we describe the clinical application of an integrated next-generation sequencing approach to determine the underlying genetic defects in a Spanish...

Thyroid cancer, a cancerous tumor or growth located within the thyroid gland, is the most common endocrine cancer. It is one of the few cancers whereby incidence rates have increased in recent years. It occurs in all age groups, from children through to seniors. Most studies are focused on dissecting its genetic basis, since our current...