A5082890922- Growth Hormone and Insulin-like Growth Factors
- Regulation of Appetite and Obesity
- Adipose Tissue and Metabolism
- Birth, Development, and Health
- Adipokines, Inflammation, and Metabolic Diseases
- Genetic Syndromes and Imprinting
- Biochemical Analysis and Sensing Techniques
- Diet and metabolism studies
- Hypothalamic control of reproductive hormones
- Pancreatic function and diabetes
- Diabetes and associated disorders
- Pituitary Gland Disorders and Treatments
- Obesity, Physical Activity, Diet
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Eating Disorders and Behaviors
- Health and Lifestyle Studies
- Diet, Metabolism, and Disease
- Metabolism, Diabetes, and Cancer
- Genetics and Neurodevelopmental Disorders
- Thyroid Disorders and Treatments
- Stress Responses and Cortisol
- Lipid metabolism and disorders
- Hedgehog Signaling Pathway Studies
- Sexual Differentiation and Disorders
- Diabetes Management and Research
Universidad Autónoma de Madrid
2016-2025
Hospital Infantil Universitario Niño Jesús
2016-2025
Instituto de Salud Carlos III
2016-2025
Centro de Investigación Biomédica en Red
2016-2025
IMDEA Food
2017-2025
Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition
2015-2024
Madrid Institute for Advanced Studies
2014-2024
Consejo Superior de Investigaciones Científicas
1993-2024
Hospital Universitario de La Princesa
2015-2024
Menéndez Pelayo International University
2008-2024
The neuronal circuits involved in the regulation of feeding behavior and energy expenditure are soft-wired, reflecting relative activity postsynaptic system, including anorexigenic proopiomelanocortin (POMC)-expressing cells arcuate nucleus. We analyzed synaptic input organization melanocortin system lean rats that were vulnerable (DIO) or resistant (DR) to diet-induced obesity. found a distinct difference quantitative qualitative synaptology POMC between DIO DR animals, with significantly...
Glial cells perform critical functions that alter the metabolism and activity of neurons, there is increasing interest in their role appetite energy balance. Leptin, a key regulator metabolism, has previously been reported to influence glial structural proteins morphology. Here, we demonstrate metabolic status leptin also modify astrocyte-specific glutamate glucose transporters, indicating signals synaptic efficacy uptake and, ultimately, neuronal function. We found basal glucose-stimulated...
No epidemiological data are available on central precocious puberty (CPP) in the general population or adopted immigrant children Spain.We aimed to study incidence and prevalence of CPP, assess risk developing this disorder among children, analyze predictive variables CPP associated with intracranial pathology.An observational diagnosed Spain was carried out between January 2008 2010. A computer program designed process clinical biological information 250 patients treated 34 pediatric...
Research Article22 February 2016Open Access Transparent process Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability Andrew Dauber Cincinnati Center for Growth Disorders, Division of Endocrinology, Children's Hospital Medical Center, Cincinnati, OH, USA Search more papers by this author María T Muñoz-Calvo Department Pediatrics & Pediatric Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Universidad Autónoma Madrid,...
Obesity and its associated secondary complications are active areas of investigation in search effective treatments. As a result this intensified research numerous differences between males females at all levels metabolic control have come to the forefront. These include not only amount distribution adipose tissue, but also capacity functions sexes. Here, we review some recent advances our understanding these dimorphisms emphasize fact that must be taken into consideration hopes obtaining...
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. Whole-genome linkage analysis five informative identified a single significant locus on chromosome 16p13.2 (logarithm odds score 6.5). Sequencing the coding regions all linked genes failed to identify biallelic mutations. Instead, we...
The molecular basis of a significant number cases isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for minor spliceosome protein required U11/U12 small nuclear ribonucleoprotein (snRNP) formation splicing U12‐type introns. found anomalies di‐snRNP multiple introns patient cells. Defective transcripts include preprohormone convertases SPCS2 SPCS3...
The treatment for cocaine use constitutes a clinical challenge because of the lack appropriate therapies and high rate relapse. Recent evidence indicates that immune system might be involved in pathogenesis addiction its co-morbid psychiatric disorders. This work examined plasma pro-inflammatory cytokine chemokine profile abstinent users (n = 82) who sought outpatient age/sex/body mass-matched controls 65). Participants were assessed with diagnostic interview Psychiatric Research Interview...
Fsp27 is a lipid droplet-associated protein almost exclusively expressed in adipocytes where it facilitates unilocular droplet formation. In mice, deficiency associated with increased basal lipolysis, 'browning' of white fat and healthy metabolic profile, whereas patient congenital CIDEC manifested an adverse lipodystrophic phenotype. Here we reconcile these data by showing that exposing Fsp27-null mice to substantial energetic stress crossing them ob/ob or BATless feeding high-fat diet,...
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including congenital acquired causes that can be associated with structural or functional brain alterations. All CPP culminate in the premature pulsatile secretion hypothalamic GnRH and, consequently, reactivation hypothalamic-pituitary-gonadal axis. activation excitatory factors suppression inhibitory during childhood represent 2 major mechanisms CPP, revealing a delicate balance these opposing neuronal...
Abstract Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous these...
Abstract Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There limited evidence on how obesity affect health-related quality of life in patients syndrome, management these symptoms may influence burden. This analysis evaluated changes adults children Phase 3 trial following 1 year setmelanotide treatment (ClinicalTrials.gov identifier: NCT03746522). Methods Patients received 52 weeks completed various self-reported...
We have studied the GH-insulin-like growth factor (IGF) axis in patients with anorexia nervosa at time of diagnosis and two points during weight recuperation. report their spontaneous GH secretion IGF-I, free IGF-I (fIGF-I), IGF-II, IGF-binding proteins (IGFBP-1, IGFBP-2, IGFBP-3), GH-binding protein (GHBP) levels clinical (n = 50) after recuperation between 6–8% 42) 10% or less initial 20). Two distinct groups were seen, those who significantly hypersecreted whose was reduced significantly....