Search Results - "Fernández Pombo, Antía"

A cohort analysis of familial partial lipodystrophy from two Mediterranean countries by Fernández‐Pombo, Antía, Yildirim Simsir, Ilgin, Sánchez‐Iglesias, Sofía, Ozen, Samim, Castro, Ana I., Atik, Tahir, Loidi, Lourdes, Onay, Huseyin, Prado‐Moraña, Teresa, Adiyaman, Cem, Díaz‐López, Everardo Josué, Altay, Canan, Ginzo‐Villamayor, Maria José, Akinci, Baris, Araújo‐Vilar, David

“…Aim To assess the disease burden of familial partial lipodystrophy (FPLD) caused by LMNA (FPLD2) and PPARG (FPLD3) variants to augment the knowledge of these…”
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Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation by Cobelo-Gómez, Silvia, Sánchez-Iglesias, Sofía, Fernández-Pombo, Antía, Araújo-Vilar, David

“…The accumulation of farnesylated prelamin A has been suggested as one of the mechanisms responsible for the loss of fat in type 2 familial partial…”
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A murine model of BSCL2-associated Celia's encephalopathy by Cobelo-Gómez, Silvia, Sánchez-Iglesias, Sofía, Rábano, Alberto, Senra, Ana, Aguiar, Pablo, Gómez-Lado, Noemí, García-Varela, Lara, Burgueño-García, Iván, Lampón-Fernández, Laura, Fernández-Pombo, Antía, Díaz-López, Everardo Josué, Prado-Moraña, Teresa, San Millán, Beatriz, Araújo-Vilar, David

“…Celia's encephalopathy or progressive encephalopathy with/without lipodystrophy is a neurodegenerative disease with a fatal prognosis in childhood. It is…”
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Immunotherapy-induced isolated ACTH deficiency in cancer therapy by Iglesias, Pedro, Peiró, Inmaculada, Biagetti, Betina, Paja-Fano, Miguel, Cobo, Diana Ariadel, García Gómez, Carlos, Mateu-Salat, Manuel, Genua, Idoia, Majem, Margarita, Riudavets, Mariona, Gavira, Javier, Lamas, Cristina, Fernández Pombo, Antía, Guerrero-Pérez, Fernando, Villabona, Carles, Cabezas Agrícola, José Manuel, Webb, Susan M, Díez, Juan J

“…Central adrenal insufficiency (AI) due to isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) has been recently associated with immune checkpoint…”
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Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome by Sánchez-Iglesias, Sofía, Fernández-Pombo, Antía, Araújo-Vilar, David

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Bone mineral density in familial partial lipodystrophy by Fernández‐Pombo, Antía, Ossandon‐Otero, Javier A., Guillín‐Amarelle, Cristina, Sánchez‐Iglesias, Sofía, Castro, Ana I., González‐Méndez, Blanca, Rodríguez‐García, Silvia, Rodriguez‐Cañete, Leticia, Casanueva, Felipe F., Araújo‐Vilar, David

“…Summary Objective Type 1 and type 2 familial partial lipodystrophies (FPLD) are characterized by the loss or increase in subcutaneous fat in certain body…”
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Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain by Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Castro-Pais, Ana I, Ginzo-Villamayor, Maria José, Cobelo-Gómez, Silvia, Prado-Moraña, Teresa, Díaz-López, Everardo Josué, Casanueva, Felipe F, Loidi, Lourdes, Araújo-Vilar, David

“…The rarity of lipodystrophies implies that they are not well-known, leading to delays in diagnosis/misdiagnosis. The aim of this study was to assess the…”
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Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis by Vázquez-Mosquera, María E, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Bellido-Guerrero, Diego, Tejera-Pérez, Cristina, Martinez-Olmos, Miguel A, Fernández-Pombo, Antía, Castaño-González, Luis A, Chans-Gerpe, Roi, Couce, María L

“…Diagnosis of mature-onset diabetes of the young (MODY), a non-autoimmune monogenic form of diabetes mellitus, is confirmed by genetic testing. However, a…”
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LipoDDx: a mobile application for identification of rare lipodystrophy syndromes by Araújo-Vilar, David, Fernández-Pombo, Antía, Rodríguez-Carnero, Gemma, Martínez-Olmos, Miguel Ángel, Cantón, Ana, Villar-Taibo, Rocío, Hermida-Ameijeiras, Álvaro, Santamaría-Nieto, Alicia, Díaz-Ortega, Carmen, Martínez-Rey, Carmen, Antela, Antonio, Losada, Elena, Muy-Pérez, Andrés E, González-Méndez, Blanca, Sánchez-Iglesias, Sofía

“…Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated…”
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Lesion location and other predictive factors of dysphagia and its complications in acute stroke by Fernández-Pombo, Antía, Seijo-Raposo, Iván Manuel, López-Osorio, Nuria, Cantón-Blanco, Ana, González-Rodríguez, María, Arias-Rivas, Susana, Rodríguez-Yáñez, Manuel, Santamaría-Nieto, Alicia, Díaz-Ortega, Carmen, Gómez-Vázquez, Eva, Martínez-Olmos, Miguel Ángel

“…SummaryBackground and aimsEarly detection of dysphagia is crucial in stroke patients as a result of increased morbidity and mortality due to malnutrition and…”
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Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation by Araújo-Vilar, David, Flores-Ríos, Enrique, Garrido-Pumar, Miguel, Cabanas-Rodríguez, Paloma, Peinó-García, Roberto, Loidi, L., Puñal-Rodríguez, Jose A., Cameselle-Teijeiro, José, Fernández-Pombo, Antía, Baleato-Gonzalez, Sandra

“…Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that…”
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Modern imaging of pituitary adenomas by Bashari, Waiel A., Senanayake, Russell, Fernández-Pombo, Antía, Gillett, Daniel, Koulouri, Olympia, Powlson, Andrew S., Matys, Tomasz, Scoffings, Daniel, Cheow, Heok, Mendichovszky, Iosif, Gurnell, Mark

“…Decision-making in pituitary disease is critically dependent on high quality imaging of the sella and parasellar region. Magnetic resonance imaging (MRI) is…”
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Relevance of nutritional assessment and treatment to counteract cardiac cachexia and sarcopenia in chronic heart failure by Fernández-Pombo, Antía, Rodríguez-Carnero, Gemma, Castro, Ana I., Cantón-Blanco, Ana, Seoane, Luisa M., Casanueva, Felipe F., Crujeiras, Ana B., Martínez-Olmos, Miguel A.

“…Chronic heart failure (CHF) is frequently associated with the involuntary loss of body weight and muscle wasting, which can determine the course of the disease…”
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Characteristics of people with type 1 diabetes influence the educational process for starting insulin pump therapy: an observational study by Izquierdo, Verónica, Pazos-Couselo, Marcos, González-Rodríguez, María, Martínez-Santos, Alba-Elena, Andujar-Plata, Paula, Díaz-Trastoy, Olaia, Fernández-Pombo, Antía, Sigüeiro-Paulos, Sara, Rodríguez-González, Raquel

“…Limited data exist on educational programs for people using insulin pump (IP) therapy or those considering its initiation, and the influence of individual…”
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Epigenetic Effects of Healthy Foods and Lifestyle Habits from the Southern European Atlantic Diet Pattern: A Narrative Review by Lorenzo, Paula M, Izquierdo, Andrea G, Rodriguez-Carnero, Gemma, Fernández-Pombo, Antía, Iglesias, Alba, Carreira, Marcos C, Tejera, Cristina, Bellido, Diego, Martinez-Olmos, Miguel A, Leis, Rosaura, Casanueva, Felipe F, Crujeiras, Ana B

“…Recent scientific evidence has shown the importance of diet and lifestyle habits for the proper functioning of the human body. A balanced and healthy diet,…”
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Familial partial lipodystrophy syndromes by Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Araújo-Vilar, David

“…Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the familial partial…”
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Lipodystrophy-associated progeroid syndromes by Araújo-Vilar, David, Fernández-Pombo, Antía, Cobelo-Gómez, Silvia, Castro, Ana I., Sánchez-Iglesias, Sofía

“…With the exception of HIV-associated lipodystrophy, lipodystrophy syndromes are rare conditions characterized by a lack of adipose tissue, which is not…”
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Lipodystrophic laminopathies: Diagnostic clues by Guillín-Amarelle, Cristina, Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Araújo-Vilar, David

“…The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate…”
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Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies by Sánchez-Iglesias, Sofía, Fernández-Liste, Alberto, Guillín-Amarelle, Cristina, Rábano, Alberto, Rodriguez-Cañete, Leticia, González-Méndez, Blanca, Fernández-Pombo, Antía, Senra, Ana, Araújo-Vilar, David

“…[Display omitted] •BSCL2 expression in human brains decreases with age.•BSCL2 expression correlates with oxidative stress protection and peroxisome biogenesis…”
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Increased musculature: A warning sign of familial partial lipodystrophy by Araujo-Vilar, David, Fernández-Pombo, Antía, Cobelo-Gómez, Silvia, Castro, Ana I., Sánchez-Iglesias, Sofía

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