A5101661370- Pregnancy and preeclampsia studies
- Birth, Development, and Health
- Vascular Malformations and Hemangiomas
- Maternal and fetal healthcare
- Neonatal Respiratory Health Research
- Vascular Malformations Diagnosis and Treatment
- Reproductive System and Pregnancy
- Nail Diseases and Treatments
- Neuroblastoma Research and Treatments
- Autoimmune Bullous Skin Diseases
- Gestational Diabetes Research and Management
- Glioma Diagnosis and Treatment
- Tracheal and airway disorders
- Cutaneous Melanoma Detection and Management
- Toxoplasma gondii Research Studies
- Soft tissue tumor case studies
- Prenatal Screening and Diagnostics
- Teratomas and Epidermoid Cysts
- Genetic and rare skin diseases.
- Hedgehog Signaling Pathway Studies
- Islanding Detection in Power Systems
- Gestational Trophoblastic Disease Studies
- Sarcoma Diagnosis and Treatment
- Histiocytic Disorders and Treatments
- Neonatal and fetal brain pathology
Hospital Sant Joan de Déu Barcelona
2016-2025
Universitat de Barcelona
2011-2024
To perform a comprehensive assessment of the placental aging process in small term fetuses classified as being small-for-gestational age (SGA) or having fetal growth restriction (FGR) through analysis senescence and apoptosis markers.This was prospective nested case-control study singleton pregnancies delivered at term, including 21 control with normally grown 36 fetus SGA (birth weight between 3rd 9th percentiles normal fetoplacental Doppler; n = 18) FGR < percentile and/or abnormal...
To describe placental histopathological findings in a large cohort of pregnancies complicated by pre-eclampsia (PE) and/or small-for-gestational age (SGA), and to investigate their association with fetoplacental Doppler parameters.This was prospective observational study normotensive SGA (defined as birth weight < 10th centile) (n = 184), PE normally grown fetus 102), both 120) uncomplicated 202). Uterine (UtA), umbilical (UA) fetal middle cerebral (MCA) artery pulsatility indices (PI) were...
Abstract PTEN Hamartoma Tumor Syndrome (PHTS) is a rare tumor risk disorder caused by germline loss-of-function mutations in PTEN. Half of these patients develop vascular malformations, hamartoma characterized overgrowth vessels. Here, we harness biopsies and patient-derived endothelial cells (ECs) to study the genetic etiology PHTS-related malformations. We discover that lesions are generated somatic loss wild-type allele through copy-neutral heterozygosity, leading uniparental disomy...
Aims The current WHO classification of melanocytic tumours excludes neoplasms showing BRAF or NRAS mutations from the Spitz category. This study aimed to review and reclassify atypical with spitzoid morphological features diagnosed between 2009 2021 in our hospital after expanding molecular profile, including all cases. Methods results A total 71 (Spitz‐like) atypia were included. risk progression was first studied by integrating morphology, immunohistochemistry (p16, Ki67, HMB45 PRAME)...
Neonatal lupus erythematosus (NLE) is an uncommon condition usually associated with maternal anti-Ro autoantibodies. The cutaneous lesions of NLE are transient, disappearing about six months after birth, but telangiectasia a rare complication which persists. Telangiectasias small focal red macules and papules created by abnormally prominent capillaries, venules, arterioles characteristic marker connective tissue diseases. We report the case infant diagnosed presenting typical annular...
Abstract We report the fifth case of epidermal choristoma oral cavity in a Caucasian newborn with congenital melanotic macule on dorsum tongue. Epidermal is an exceedingly rare and benign condition probably caused by developmental abnormality. It identified according to presence normal skin abnormal location. Histologically it areas stratified epithelium hyperpigmentation basal layer along cutaneous adnexal structures (hair follicles, sebaceous or sweat glands). The clinical presentation...
K-ras is essential for embryogenesis and its mutations are involved in human developmental syndromes cancer. To determine the consequences of activation urothelium, we used uroplakin-II (UPK II) promoter driven Cre recombinase mice generated with mutated KrasG12D allele urothelium II-Cre;LSL-K-rasG12D). The UPK II-Cre;LSL-K-rasG12D died neonatally due to lung morphogenesis defects consisting simplification enlargement terminal air spaces dysmorphic pulmonary vasculature. A significant...
Introduction The incidence of intrauterine growth restriction (IUGR) is estimated at about 3% pregnancies, and it associated with 30% all perinatal mortality severe morbidity adverse neurodevelopmental cardiovascular health consequences in adult life. Early onset IUGR represents 20%–30% cases highly placental insufficiency. existing evidence suggests that low molecular weight heparin (LMWH) has effects beyond its antithrombotic action, improving microvessel structure function pregnant women...
ABSTRACT Low-flow vascular malformations are congenital overgrowths composed by abnormal blood vessels potentially causing pain, bleeding, and obstruction of different organs. These diseases caused oncogenic mutations in the endothelium which result overactivation PI3K/AKT pathway. Lack robust vivo preclinical data has prevented development translation into clinical trials specific molecular therapies for these diseases. Here, we describe a new reproducible model PI3K-driven using postnatal...
Phacomatosis pigmentokeratotica (PPK) is a RASopathy characterized by the presence of sebaceous nevus and papular speckled lentiginous nevus. This case report highlights associated extracutaneous comorbidities, including life-threatening arrhythmia, introduces topical rapamycin as potential therapeutic avenue for in PPK patients.
An otherwise healthy eight‐year‐old girl presented with a mass in the soft tissue of sacral region. The lesion was diagnosed as vascular malformation on imaging studies, for which percutaneous sclerotherapy attempted. continued to grow and complete resection performed after four years. pathological diagnosis giant cell ependymoma (GCE). GCE is term used describe rare histologic variant characterized by malignancy‐like morphologic phenotype indolent behavior. To best our knowledge, this first...
Congenital glioblastoma multiforme represents only 3% of congenital central nervous system tumours and an infratentorial location is unusual.A newborn with no mutation in the TP53 gene or p53 nuclear immunoreactivity that infiltrated practically whole brainstem also invaded supratentorial structures.As far as we know, four cases have been reported previously, three cerebellum one brainstem. The biology not well known and, unlike adults children, mutations are uncommon. However, this...
Recently, a comprehensive classification system including maternal and fetal vascular infectious idiopathic/immune inflammatory processes has been proposed. The aim of this study was to describe placental pathological findings according recent in small-for-gestational age (SGA) newborns as compared uncomplicated pregnancies. A prospective cohort 45 pregnancies 110 SGA (defined by birth weight < 10th centile) 38 cases associated preeclampsia (PE). Placental lesions were histologically...