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JOURNAL ARTICLE
Alejandro A Castellanos, María Del Carmen Castillo, Laura Montoya, María Elvira Ruiz, Jorge L Zapateiro, Juan Patricio Nogueira
Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers, one of them with xanthomas in extremities as the only symptom, and the other, completely asymptomatic...
March 4, 2024: Clínica e Investigación en Arteriosclerosis
#2
JOURNAL ARTICLE
Pablo Corredoira, Victoria Marco-Benedi, Ana Cenarro, Sonia Peribáñez, Salvador Olmos, Fernando Civeira
INTRODUCTION AND OBJECTIVES: Tendon xanthomas (TX) are lipid deposits highly specific to familial hypercholesterolemia (FH). However, there is significant variability in their presentation among FH patients, primarily due to largely unknown causes. Lipoprotein(a) is a well-established independent risk factor for atherosclerotic cardiovascular disease in the general population as well as in FH. Given the wide variability of lipoprotein(a) among FH individuals and the likelihood that TX may result from a proatherogenic and proinflammatory condition, the objective of this study was to analyze the size of TX in the Achilles tendons of FH participants and the variables associated with their presence, including lipoprotein(a) concentration...
January 5, 2024: Revista Española de Cardiología
#3
JOURNAL ARTICLE
Francesco Sbrana, Beatrice Dal Pino, Federico Bigazzi, Tiziana Sampietro
"The lower, the better" is the recommended approach in the management of high LDL cholesterol. Unfortunately, this does not always achieve as in the case of a 69-year-old woman referred to our Institute for her lipid profile (LDL cholesterol 412mg/dl), bilateral xanthelasma and cutaneous xanthomas. With a maximized and personalized lipid-lowering therapies (rosuvastatin, ezetimibe, PCSK9i and lipoprotein apheresis), after only six months, the patient showed an impressive regression in her cutaneous xanthomas...
November 27, 2023: Clínica e Investigación en Arteriosclerosis
#4
EDITORIAL
Rodrigo Alonso, Pedro Mata
No abstract text is available yet for this article.
October 20, 2023: Medicina Clínica
#5
JOURNAL ARTICLE
Teresa Gijón-Conde, Carolina Ferré Sánchez, Isabel Ibáñez Delgado, Berenice Rodríguez Jiménez, José R Banegas
OBJECTIVE: To examine the frequency of severe hypercholesterolemia (HS) and its clinical profile, and the phenotype of familial hypercholesterolemia (FH), in the primary-care setting in a large health area of the Community of Madrid (CAM). MATERIAL AND METHODS: Multicenter study of subjects with a health card assigned to 69 health centers (Northwest/CAM area). HS was defined as cholesterol ≥300mg/dL or LDL-cholesterol ≥220mg/dL in any analysis performed (1-1-2018 to 12-30-2021); and FH phenotype as c-LDL ≥240mg/dL (≥160mg/dL if lipid-lowering treatment) with triglycerides <200mg/dL and TSH <5μIU/mL...
September 22, 2023: Clínica e Investigación en Arteriosclerosis
#6
JOURNAL ARTICLE
Marian Goicoechea, Vicente Álvarez, Alfonso Segarra, Manuel Polaina, Guillermo Martín-Reyes, Nicolás Roberto Robles, Verónica Escudero, Cristhian Orellana, Sergio Bea Granell, Joaquín de Juan-Ribera, Milagros Fernández Lucas, Jose Maria Graña, Javier Reque, Rosa Sánchez Hernández, Santiago Villamayor, Jose Luis Górriz
BACKGROUND AND OBJECTIVE: To describe the clinical characteristics, the reasons for initiating therapy and the effects of treatment in the initial phase of evolocumab availability in the Nephrology Units of Spain. MATERIAL AND METHODS: Retrospective, observational and multicentric study that included patients initiating treatment with evolocumab (from February 2016 to August 2018), in 15 Nephrology Units in Spain. The demographic and clinical characteristics of the patients, the lipid lowering treatment and the evolution of the lipid profiles between 24 weeks pre-initiation and 12±4 weeks post-initiation of evolocumab were reviewed...
2022: Nefrología
#7
JOURNAL ARTICLE
Carlos E Cabrera Pivaral, Ana Rosa Rincón Sánchez, Sergio Alberto Ramírez-García
No abstract text is available yet for this article.
August 10, 2022: Medicina Clínica
#8
EDITORIAL
Maria Cristina Oliveira Izar, Francisco A H Fonseca
No abstract text is available yet for this article.
April 2022: Arquivos Brasileiros de Cardiologia
#9
JOURNAL ARTICLE
Andrea Sánchez, Paulina Bustos, Paula Honorato, Katia Sáez, Cinthia Elim-Jannes, Natalia Barriga, Guillermo Ibieta, Luis Pérez, Rodrigo Alonso, Claudia Radojkovic, Sylvia Asenjo
BACKGROUND: Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). AIM: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD. MATERIAL AND METHODS: Clinical and biochemical parameters were evaluated, and nine genes related to FH were sequenced namely LDLR, APOB, PCSK9, LDLRAP1, LIPA, APOE, ABCG5, ABCG8 and STAP1, in 55 children and adolescents aged 1 to 18 years old, from non-consanguineous families...
September 2021: Revista Médica de Chile
#10
JOURNAL ARTICLE
Cinthia Elim Jannes, Júnea Paolucci Paiva Silvino, Pãmela Rodrigues de Souza Silva, Isabella Ramos Lima, Mauricio Teruo Tada, Theo Gremen Mimary Oliveira, Raul D Santos, José Eduardo Krieger, Alexandre da Costa Pereira
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disease characterized by elevated serum levels of low-density lipoprotein cholesterol (LDL-C), and it is associated with the occurrence of early cardiovascular disease. In Brazil, HipercolBrasil, which is currently the largest FH cascade screening program, has already identified more than 2000 individuals with causal genetic variants for FH. The standard approach is based on cascade screening of referred index cases, individuals with hypercholesterolemia and clinical suspicion of FH...
February 7, 2022: Arquivos Brasileiros de Cardiologia
#11
JOURNAL ARTICLE
Eva Nadiejda Gutiérrez-Cortizo, Manuel Jesús Romero-Jiménez, María Elena Mansilla Rodríguez, María Angustias Díaz Santos, Francisco Javier Caballero Granado, Elena Sánchez Ruiz-Granados, José Luis Sánchez Ramos, Pedro Mata
BACKGROUND: Familial Hypercholesterolemia is the most frequent genetic cause of premature coronary heart disease. The delay in the diagnosis prevents the correct early treatment. There are no effective screening strategies at the national level that ensure a correct diagnosis. OBJECTIVE: To determine the capacity of a centralized laboratory for the diagnosis of Familial Hypercholesterolemia through the creation of a health program for population screening in the province of Huelva...
August 2021: Endocrinología, diabetes y nutrición
#12
JOURNAL ARTICLE
Maria Cristina de Oliveira Izar, Viviane Zorzanelli Rocha Giraldez, Adriana Bertolami, Raul Dias Dos Santos Filho, Ana Maria Lottenberg, Marcelo Heitor Vieira Assad, José Francisco Kerr Saraiva, Ana Paula M Chacra, Tania L R Martinez, Luciana Ribeiro Bahia, Francisco Antonio Helfenstein Fonseca, Andre Arpad Faludi, Andrei C Sposito, Antônio Carlos Palandri Chagas, Cinthia Elim Jannes, Cristiane Kovacs Amaral, Daniel Branco de Araújo, Dennys Esper Cintra, Elaine Dos Reis Coutinho, Fernando Cesena, Hermes Toros Xavier, Isabela Cardoso Pimentel Mota, Isabela de Carlos Back Giuliano, José Rocha Faria Neto, Juliana Tieko Kato, Marcelo Chiara Bertolami, Marcio Hiroshi Miname, Maria Helane Costa Gurgel Castelo, Maria Sílvia Ferrari Lavrador, Roberta Marcondes Machado, Patrícia Guedes de Souza, Renato Jorge Alves, Valeria Arruda Machado, Wilson Salgado Filho
No abstract text is available yet for this article.
October 2021: Arquivos Brasileiros de Cardiologia
#13
JOURNAL ARTICLE
Carlos Guijarro, Fernando Civeira, José López-Miranda, Luis Masana, Juan Pedro-Botet, Xavier Pintó, Pedro Valdivielso, José María Mostaza
AIMS: During 2019 and 2020 a series of meetings over the country were carried out, with the aim of explaining the methodology and criteria for the ellaboration of the recommendations on the use of iPCSK9, published by the Spanish Society of Atherosclerosis (SEA in Spanish). At the end of the meetings, a survey was conducted among the participants, in order to describe the prescription requirements of these drugs in the Spanish regions. METHODOLOGY: Butterfly Project was developed by a scientific Committee of experts in lipids...
October 14, 2021: Clínica e Investigación en Arteriosclerosis
#14
JOURNAL ARTICLE
Marian Goicoechea, Vicente Álvarez, Alfonso Segarra, Manuel Polaina, Guillermo Martín-Reyes, Nicolás Roberto Robles, Verónica Escudero, Cristhian Orellana, Sergio Bea Granell, Joaquín de Juan-Ribera, Milagros Fernández Lucas, Jose Maria Graña, Javier Reque, Rosa Sánchez Hernández, Santiago Villamayor, Jose Luis Górriz
BACKGROUND AND OBJECTIVE: To describe the clinical characteristics, the reasons for initiating therapy and the effects of treatment in the initial phase of evolocumab availability in the Nephrology Units of Spain. MATERIAL AND METHODS: Retrospective, observational and multicentric study that included patients initiating treatment with evolocumab (from February 2016 to August 2018), in 15 Nephrology Units in Spain. The demographic and clinical characteristics of the patients, the lipid lowering treatment and the evolution of the lipid profiles between 24 weeks pre-initiation and 12±4 weeks post-initiation of evolocumab were reviewed...
August 10, 2021: Nefrología
#15
JOURNAL ARTICLE
R Rodríguez Escobedo, S González Martínez, L Díaz Naya, L Suárez Gutiérrez, J L Fernández Morera, M Riestra Fernández, C Martínez Faedo, F Villazón González, E L Menéndez Torre
BACKGROUND: Inhibitors of proprotein convertase subtilisin/kexin type9 (PCSK9 inhibitors) are a treatment option for those patients with familial hypercholesterolemia or in secondary prevention who do not reach the LDL-C target with other therapeutic measures. The aim of this study is to assess the effectiveness and safety of these drugs. METHODS: Retrospective, multicentric, descriptive study. We collected data from all patients that have started PCSK9 inhibitors treatment in three hospitals in Asturias since the beginning of its use in 2016...
June 7, 2021: Semergen
#16
JOURNAL ARTICLE
Teresa Arrobas Velilla, Ángel Brea, Pedro Valdivielso
INTRODUCTION AND OBJECTIVE: Familial hypercholesterolaemia (FH) is the most common genetic disorder associated with premature coronary artery disease due to the presence of LDL-C cholesterol increased from birth. It is underdiagnosed and undertreated. The primary objective of the ARIAN project was to determine the number of patients diagnosed with FH after implementing a new screening procedure from the laboratory. MATERIAL AND METHODS: This project was designed as a retrospective analysis by consulting the computer system...
November 2021: Clínica e Investigación en Arteriosclerosis
#17
REVIEW
Juan Pedro-Botet, Elisenda Climent, Nuria Gabarró, Jesús Millán
Familial combined hyperlipidaemia (FCH) is the most prevalent form of familial hyperlipidaemia with a multigenic origin and a complex pattern of inheritance. In this respect, FCH is an oligogenic primary lipid disorder due to interaction of genetic variants and mutations with environmental factors. Patients with FCH are at increased risk of cardiovascular disease and often have other associated metabolic conditions. Despite its relevance in cardiovascular prevention, FCH is frequently underdiagnosed and very often undertreated...
May 2021: Clínica e Investigación en Arteriosclerosis
#18
EDITORIAL
Elizabeth do Nascimento, José Luiz de Brito Alves
No abstract text is available yet for this article.
April 2021: Arquivos Brasileiros de Cardiologia
#19
JOURNAL ARTICLE
Rosa M Sánchez-Hernández, Ana M González-Lleó, Antonio Tugores, Yeray Brito-Casillas, Fernando Civeira, Mauro Boronat, Ana Wägner
INTRODUCTION: Gran Canaria is a region of genetic isolation of familial hypercholesterolemia due to a founder mutation, p. [Tyr400_Phe402del], in the LDL receptor (LDLR) gene. Initial data suggest that its carriers could have a high prevalence of diabetes. MATERIAL AND METHODS: Patients over 30 years of age with familial hypercholesterolemia and a confirmed mutation in LDLR were recruited from a tertiary hospital in Gran Canaria. The prevalence of diabetes and other clinical data were compared among carriers of p...
April 1, 2021: Clínica e Investigación en Arteriosclerosis
#20
JOURNAL ARTICLE
Eva Nadiejda Gutiérrez-Cortizo, Manuel Jesús Romero-Jiménez, María Elena Mansilla Rodríguez, María Angustias Díaz Santos, Francisco Javier Caballero Granado, Elena Sánchez Ruiz-Granados, José Luis Sánchez Ramos, Pedro Mata
BACKGROUND: Familial Hypercholesterolemia is the most frequent genetic cause of premature coronary heart disease. The delay in the diagnosis prevents the correct early treatment. There are no effective screening strategies at the national level that ensure a correct diagnosis. OBJECTIVE: To determine the capacity of a centralized laboratory for the diagnosis of Familial Hypercholesterolemia through the creation of a health program for population screening in the province of Huelva...
February 27, 2021: Endocrinología, Diabetes y Nutrición
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