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5.
J Perinat Med ; 49(9): 1129-1134, 2021 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-34213841

RESUMO

OBJECTIVES: The effects of lipid metabolism disorders (LMD) on pregnancy outcomes is not well known. The purpose of this study is to evaluate the impact of LMD on maternal and fetal outcomes. METHODS: Using the Healthcare Cost and Utilization Project - National Inpatient Sample from the United States, we carried out a retrospective cohort study of all births between 1999 and 2015 to determine the risks of complications in pregnant women known to have LMDs. All pregnant patients diagnosed with LMDs between 1999 and 2015 were identified using the International Classification of Disease-9 coding, which included all patients with pure hypercholesterolemia, pure hyperglyceridemia, mixed hyperlipidemia, hyperchylomicronemia, and other lipid metabolism disorders. Adjusted effects of LMDs on maternal and newborn outcomes were estimated using unconditional logistic regression analysis. RESULTS: A total of 13,792,544 births were included, 9,666 of which had an underlying diagnosis of LMDs for an overall prevalence of 7.0 per 10,000 births. Women with LMDs were more likely to have pregnancies complicated by diabetes, hypertension, and premature births, and to experience myocardial infarctions, venous thromboembolisms, postpartum hemorrhage, and maternal death. Their infants were at increased risk of congenital anomalies, fetal growth restriction, and fetal demise. CONCLUSIONS: Women with LMDs are at significantly higher risk of adverse maternal and newborn outcomes. Prenatal counselling should take into consideration these risks and antenatal care in specialized centres should be considered.


Assuntos
Anormalidades Congênitas , Retardo do Crescimento Fetal , Transtornos do Metabolismo dos Lipídeos , Complicações na Gravidez , Cuidado Pré-Natal , Risco Ajustado/métodos , Adulto , Estudos de Coortes , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/epidemiologia , Aconselhamento Diretivo/métodos , Feminino , Morte Fetal , Retardo do Crescimento Fetal/diagnóstico , Retardo do Crescimento Fetal/epidemiologia , Humanos , Recém-Nascido , Classificação Internacional de Doenças , Transtornos do Metabolismo dos Lipídeos/classificação , Transtornos do Metabolismo dos Lipídeos/complicações , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Transtornos do Metabolismo dos Lipídeos/epidemiologia , Mortalidade Materna , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/metabolismo , Resultado da Gravidez/epidemiologia , Cuidado Pré-Natal/métodos , Cuidado Pré-Natal/estatística & dados numéricos , Medição de Risco , Estados Unidos/epidemiologia
6.
Pediatr Ann ; 50(3): e105-e112, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34038650

RESUMO

Current scientific evidence has proven that atherosclerosis is a process that begins in childhood and tracks into adulthood, likely culminating in adverse cardiovascular events such as coronary artery disease, peripheral artery disease, and stroke. In addition, the obesity epidemic and increasing awareness of genetic lipid disorders has made the understanding and management of lipid disorders necessary for pediatricians. Childhood offers a unique opportunity for preventing, modifying, or eliminating risk factors and, in doing so, reversing or slowing the process of atherosclerosis. In general, management involves targeted lifestyle interventions such as strict dietary changes and increases in physical activity. In some circumstances, pharmacotherapy, even in childhood, is warranted. [Pediatr Ann. 2021;50(3):e105-e112.].


Assuntos
Aterosclerose/prevenção & controle , Estilo de Vida , Transtornos do Metabolismo dos Lipídeos , Obesidade , Criança , Dieta , Exercício Físico , Humanos , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Transtornos do Metabolismo dos Lipídeos/etiologia , Transtornos do Metabolismo dos Lipídeos/terapia , Programas de Rastreamento , Síndrome Metabólica , Pediatria , Fatores de Risco
7.
Rev Esp Salud Publica ; 942020 May 18.
Artigo em Espanhol | MEDLINE | ID: mdl-32419698

RESUMO

BACKGROUND: Chronic infection with the hepatitis C virus (HCV) is known to generate an apparently favorable lipid profile. Paradoxically, these patients present an increase in concomitant cardiovascular events. The objectives of the present review were to analyze and synthesize studies that inquired into the changes produced by hepatitis C virus (HCV) in the lipid metabolism of patients with chronic infection, and about whether these modifications can be associated with subsequent episodes of cardiovascular diseases. METHODS: A bibliographic search was carried out in the Medline and Scopus databases of the articles published from January 2008 to February 2019. A total of 901 publications were identified, of which 10 studies that fulfilled the inclusion and exclusion criteria were reviewed. RESULTS: It was found that the levels of total cholesterol and its lipid fractions were decreased in patients with chronic HCV infection. There was no clear association with triglyceride levels. In addition, there seemed to be an association between chronic HCV infection and an increased risk of developing atherosclerosis and cardiovascular diseases. CONCLUSIONS: Chronic HCV infection has a lipid-lowering effect and increases cardiovascular risk. Prospective studies are needed to analyze the effect of new therapies with direct-acting antivirals on lipid metabolism and cardiovascular risk.


OBJETIVO: Es conocido que la infección crónica por el virus de la hepatitis C (VHC) genera un perfil lipídico aparentemente favorable. Paradójicamente, estos pacientes presentan un aumento de eventos cardiovasculares concomitantes. Los objetivos de la presente revisión fueron analizar y sintetizar los estudios que indagasen en las modificaciones que produce el VHC sobre el metabolismo lipídico de los pacientes con infección crónica, así como estudiar si esas modificaciones pueden asociarse a episodios posteriores de enfermedad cardiovascular. METODOS: Se realizó una búsqueda bibliográfica en las bases de datos de Medline y Scopus de los artículos publicados desde enero de 2008 hasta febrero de 2019. Se identificaron un total de 901 publicaciones, de las cuales se revisaron 10 estudios que cumplieron con los criterios de inclusión y exclusión propuestos. RESULTADOS: Se encontró que en los pacientes con infección crónica por el VHC estaban disminuidos los niveles de colesterol total y sus fracciones lipídicas. No existió una clara asociación con los niveles de triglicéridos. Además, parecía haber una asociación entre la infección crónica por VHC y un aumento del riesgo de padecer aterosclerosis y de desarrollar enfermedades cardiovasculares. CONCLUSIONES: La infección crónica por el VHC tiene un efecto hipolipemiante y aumenta el riesgo cardiovascular. Se precisan estudios prospectivos que analicen el efecto de las nuevas terapias con antivirales de acción directa sobre el metabolismo lipídico y el riesgo cardiovascular.


Assuntos
Doenças Cardiovasculares/virologia , Hepatite C Crônica/metabolismo , Transtornos do Metabolismo dos Lipídeos/virologia , Metabolismo dos Lipídeos , Biomarcadores/metabolismo , Doenças Cardiovasculares/metabolismo , Colesterol/metabolismo , Hepatite C Crônica/complicações , Humanos , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Transtornos do Metabolismo dos Lipídeos/metabolismo , Fatores de Risco
8.
J Pediatr Endocrinol Metab ; 33(6): 683-690, 2020 May 24.
Artigo em Inglês | MEDLINE | ID: mdl-32447334

RESUMO

Background Fatty acid ß-oxidation disorders (FAODs) include more than 15 distinct disorders and have a wide variety of symptoms, usually not evident between episodes of acute decompensation. After the introduction of newborn screening (NBS) using tandem mass spectrometry (MS/MS), early identification of FAODs has become feasible. We analyzed the MS/MS results in Tianjin, China during a six-year period to evaluate the incidence, disease spectrum, and genetic characteristics of FAODs. Methods We analyzed the MS/MS results for screening FAODs from May 2013 to December 2018 in Tianjin, China. Infants with positive screening results were confirmed through next-generation sequencing and validated by Sanger sequencing. Results A total of 220,443 infants were screened and 25 FAODs patients were identified (1:8,817). Primary carnitine deficiency (PCD) with an incidence rate up to 1:20,040 was the most common disorder among all FAODs. Recurrent mutations of relatively common diseases, like PCD and short-chain acyl-CoA dehydrogenase deficiency (SCADD), were identified. During the follow-up, two patients suffered from sudden death due to carnitine palmitoyl transferase-Ⅱ deficiency (CPT Ⅱ) and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). Conclusion Our data indicated that FAODs are relatively common in Tianjin and may even cause infant death in certain cases. The elucidated disease spectrum and genetic backgrounds elucidated in this study may contribute to the treatment and prenatal genetic counseling of FAODs.


Assuntos
Ácidos Graxos/metabolismo , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Transtornos do Metabolismo dos Lipídeos/epidemiologia , Transtornos do Metabolismo dos Lipídeos/genética , Cardiomiopatias/diagnóstico , Cardiomiopatias/epidemiologia , Cardiomiopatias/genética , Carnitina/deficiência , Carnitina/genética , Carnitina O-Palmitoiltransferase/deficiência , Carnitina O-Palmitoiltransferase/genética , China/epidemiologia , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea/epidemiologia , Síndrome Congênita de Insuficiência da Medula Óssea/genética , Feminino , Seguimentos , Humanos , Hiperamonemia/diagnóstico , Hiperamonemia/epidemiologia , Hiperamonemia/genética , Recém-Nascido , Erros Inatos do Metabolismo Lipídico/diagnóstico , Erros Inatos do Metabolismo Lipídico/epidemiologia , Erros Inatos do Metabolismo Lipídico/genética , Masculino , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/epidemiologia , Erros Inatos do Metabolismo/genética , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/epidemiologia , Doenças Mitocondriais/genética , Doenças Musculares/diagnóstico , Doenças Musculares/epidemiologia , Doenças Musculares/genética , Triagem Neonatal/métodos , Oxirredução , Espectrometria de Massas em Tandem
9.
Curr Rheumatol Rep ; 22(3): 8, 2020 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-32067119

RESUMO

PURPOSE: This report describes the clinical manifestations of 35 patients sent to a University Immunology clinic with a diagnosis of fatigue and exercise intolerance who were identified to have low carnitine palmitoyl transferase activity on muscle biopsies. RECENT FINDINGS: All of the patients presented with fatigue and exercise intolerance and many had been diagnosed with fibromyalgia. Their symptoms responded to treatment of the metabolic disease. Associated symptoms included bloating, diarrhea, constipation, gastrointestinal reflux symptoms, recurrent infections, arthritis, dyspnea, dry eye, visual loss, and hearing loss. Associated medical conditions included Hashimoto thyroiditis, Sjogren's syndrome, seronegative arthritis, food hypersensitivities, asthma, sleep apnea, and vasculitis. This study identifies clinical features that should alert physicians to the possibility of an underlying metabolic disease. Treatment of the metabolic disease leads to symptomatic improvement.


Assuntos
Carnitina O-Palmitoiltransferase/deficiência , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Músculos/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Feminino , Humanos , Transtornos do Metabolismo dos Lipídeos/terapia , Masculino , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/terapia , Pessoa de Meia-Idade
10.
Continuum (Minneap Minn) ; 25(6): 1732-1766, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31794469

RESUMO

PURPOSE OF REVIEW: This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on those syndromes and diseases associated with myopathy. Over the past decade, advances in genetic testing have revolutionized patient evaluation. The main goal of this review is to give the clinician the basic understanding to recognize patients at risk of these diseases using the standard history and physical examination. RECENT FINDINGS: Primary mitochondrial disease is the current designation for the illnesses resulting from genetic mutations in genes whose protein products are necessary for mitochondrial structure or function. In most circumstances, more than one organ system is involved in mitochondrial disease, and the value of the classic clinical features as originally described early in the history of mitochondrial diseases has reemerged as being important to identifying patients who may have a primary mitochondrial disease. The use of the genetic laboratory has become the most powerful tool for confirming a diagnosis, and nuances of using genetic results will be discussed in this article. Treatment for mitochondrial disease is symptomatic, with less emphasis on vitamin and supplement therapy than in the past. Clinical trials using pharmacologic agents are in progress, with the field attempting to define proper goals of treatment. Several standard accepted therapies exist for many of the metabolic myopathies. SUMMARY: Mitochondrial, lipid, and glycogen diseases are not uncommon causes of multisystem organ dysfunction, with the neurologic features, especially myopathy, occurring as a predominant feature. Early recognition requires basic knowledge of the varied clinical phenotypes before moving forward with a screening evaluation and possibly a genetic evaluation. Aside from a few specific diseases for which there are recommended interventions, treatment for the majority of these disorders remains symptomatic, with clinical trials currently in progress that will hopefully result in standard treatments.


Assuntos
Doença de Depósito de Glicogênio , Transtornos do Metabolismo dos Lipídeos , Doenças Mitocondriais , Doenças Musculares , Adolescente , Idoso , Feminino , Doença de Depósito de Glicogênio/diagnóstico , Doença de Depósito de Glicogênio/genética , Doença de Depósito de Glicogênio/fisiopatologia , Humanos , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Transtornos do Metabolismo dos Lipídeos/genética , Transtornos do Metabolismo dos Lipídeos/fisiopatologia , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Doenças Mitocondriais/fisiopatologia , Doenças Musculares/diagnóstico , Doenças Musculares/genética , Doenças Musculares/metabolismo , Doenças Musculares/fisiopatologia
11.
Clín. investig. arterioscler. (Ed. impr.) ; 31(supl.2): 34-41, dic. 2019. graf, tab
Artigo em Espanhol | IBECS | ID: ibc-187075

RESUMO

Se revisa la importancia del control lipídico global en la prevención cardiovascular. Diversos estudios y metaanálisis demuestran que el control del colesterol LDL mantiene aún un elevado riesgo cardiovascular, que se relaciona con la presencia de lipoproteínas ricas en triglicéridos, y por ello con aumento de los triglicéridos plasmáticos y de los valores de apolipoproteína B que contienen estas lipoproteínas. La importancia de esta relación se debe al cambio ocurrido en los últimos años en el perfil lipídico de nuestra población, relacionado con el aumento de obesidad y de resistencia a la insulina; este perfil se denomina dislipidemia aterogénica. Así, la hipertrigliceridemia debe ser considerada factor de riesgo cardiovascular, especialmente cuando se han alcanzado los objetivos deseables del colesterol LDL. Se describen las indicaciones del tratamiento con fibratos, en prevención primaria y secundaria, basadas en recomendaciones según la medicina basada en la evidencia, así como su importancia en la reducción del riesgo cardiovascular. Finalmente, se establecen las indicaciones del tratamiento combinado estatina-fibrato, siempre tras los cambios del estilo de vida


The importance of overall lipid control in cardiovascular prevention is reviewed. Several studies and meta-analyses show that the control of LDL cholesterol (LDL-C) still maintains a high cardiovascular risk, which is related to the presence of triglyceride-rich lipoproteins, and therefore with an increase in plasma triglycerides and the values of apolipoprotein B (apoB) containing these lipoproteins. The importance of this relationship is due to the change in the lipid profile of our population in recent years. This is related to the increase in obesity and insulin resistance, and is called atherogenic dyslipidaemia. Thus, hypertriglyceridaemia should be considered a cardiovascular risk factor, especially when the desirable objectives of LDL-C have been achieved. The indications for treatment with fibrates in primary and secondary prevention, using the medical evidence-based recommendations, are described, along with its importance in the reduction of cardiovascular risk. Finally, the established indications of the combined statin-fibrate treatment are presented, always after changes in lifestyle


Assuntos
Humanos , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Transtornos do Metabolismo dos Lipídeos/terapia , Reguladores do Metabolismo de Lipídeos/uso terapêutico , Doenças Cardiovasculares/prevenção & controle , Capacidade Residual Funcional , Triglicerídeos , Fatores de Risco , Prevenção Primária , Prevenção Secundária , Hipertrigliceridemia/tratamento farmacológico , Ácidos Fíbricos/uso terapêutico
12.
Rev. lab. clín ; 12(4): e21-e33, oct.-dic. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-187309

RESUMO

Las dislipidemias son alteraciones del metabolismo lipídico que cursan con concentraciones de lípidos alteradas, tanto por exceso como por defecto. Estas alteraciones están fuertemente asociadas con el proceso aterosclerótico, y se ha demostrado que el control de dichas alteraciones consigue disminuir la incidencia de episodios de origen isquémico. Diagnosticar las dislipidemias desde un punto de vista etiológico es muy importante, ya que el riesgo cardiovascular al que predispone cada una de ellas es diferente, dependiendo del tipo de lipoproteína que esté alterada y de su concentración. Por ello es de gran utilidad disponer de algoritmos diagnósticos sencillos que incluyan magnitudes del metabolismo lipídico disponibles en la mayoría de los laboratorios clínicos, con el fin de realizar el diagnóstico inicial del tipo de dislipidemia, en caso de poseer las herramientas diagnósticas adecuadas identificarla y, en caso contrario, disponer de la información apropiada para recomendar la ampliación del estudio en otro centro que disponga de los recursos necesarios para establecer el diagnóstico


Dyslipidaemias are alterations in lipid metabolism that involve an excess, as well as a deficit, in lipid concentrations. These alterations are strongly associated with atherosclerosis, and it has been shown that its control reduces the incidence of episodes of ischaemic origin. Diagnosing dyslipidaemias from an aetiological point of view is very important, since the cardiovascular risk to which each one predisposes is different, and depends on the type of lipoprotein that is altered and its concentration. For this reason, it is very useful to have simple diagnostic algorithms that include the measurements of lipid metabolism that are available in most clinical laboratories in order to make the initial diagnosis of the type of dyslipidaemia. In the case of having the right diagnostic tools, identify it; and if not, to have the appropriate information to recommend the extension of the study in another centre with resources to establish the diagnosis


Assuntos
Humanos , Dislipidemias/diagnóstico , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Hiperlipidemias/diagnóstico , Lipidoses/diagnóstico , Hipercolesterolemia/diagnóstico , Colesterol/sangue , Lipídeos/sangue , Técnicas de Laboratório Clínico/métodos , Guias como Assunto , Metabolismo dos Lipídeos/fisiologia , Dislipidemias/classificação , Diagnóstico Diferencial
13.
Rev. bras. cir. plást ; 34(1): 31-37, jan.-mar. 2019. ilus, tab
Artigo em Português | LILACS | ID: biblio-994539

RESUMO

Introdução: Lipoaspiração associada a dermolipectomias é o procedimento cirúrgico mais comumente realizado em cirurgia plástica. Apesar de ser considerada uma cirurgia extremamente segura, algumas considerações devem ser levantadas a respeito dos possíveis efeitos metabólicos que essas cirurgias possam causar. O desenvolvimento da técnica tumescente de lipoaspiração permitiu a remoção de grande quantidade de gordura de modo mais seguro. O objetivo é comparar as variações do perfil lipídico em pós-operatório precoce e tardio de pacientes submetidos à lipoaspiração e dermolipectomias. Métodos: Entre outubro de 2006 e junho de 2012, 40 pacientes do sexo feminino candidatas a cirurgias que envolviam lipoaspiração e dermolipectomias foram acompanhadas prospectivamente e o perfil lipídico foi analisado por meio de exames no pré-operatório e no pós-operatório. As cirurgias realizadas foram: mamoplastia + lipoaspiração, abdominoplastia + lipoaspiração e lipoabdominoplastia + mamoplastia. Resultados: Das 40 pacientes que foram acompanhadas no estudo, 20 pacientes do sexo feminino foram selecionadas (após a aplicação dos critérios de exclusão). Em consonância com nosso estudo, Cazes, em 1996, demonstrou que após 12 meses de pós-operatório de lipoabdominoplastia não houve alteração do perfil lipídico das pacientes. Conclusão: Após análise pré- e pós-operatória de 20 pacientes, observamos que não há alterações estatísticas significantes em relação ao perfil lipídico com tendência de equilíbrio das aferições em um ano em patamares próximos aos observados no pré-operatório.


Introduction: Liposuction associated with dermolipectomies is the most commonly performed surgical procedure in plastic surgery. Although regarded as an extremely safe surgery, some considerations must be taken on the possible metabolic effects of these surgeries. The development of the tumescent technique in liposuction allowed the safer removal of large amounts of fat. The objective is to compare lipid profile variations in the early and late postoperative period in patients undergoing liposuction and dermolipectomies. Methods: Between October 2006 and June 2012, 40 female patients who were candidates for surgeries involving liposuction and dermolipectomies were prospectively followed, and the lipid profile was analyzed through preoperative and postoperative examinations. The surgeries performed were mammoplasty + liposuction, abdominoplasty + liposuction, and lipoabdominoplasty + mammoplasty. Results: Of the 40 female patients who were followed, 20 were selected (after applying the exclusion criteria). In agreement with our study, in 1996, Cazes showed that there were no changes in the lipid profile of patients 12 months after lipoabdominoplasty. Conclusion: After a preoperative and postoperative analysis of 20 patients, it was observed that there were no statistically significant changes in the lipid profile and that the measurements after 1 year were close to those obtained in the preoperative period.


Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Complicações Pós-Operatórias/cirurgia , Procedimentos Cirúrgicos Operatórios/efeitos adversos , Procedimentos Cirúrgicos Operatórios/métodos , Triglicerídeos/análise , Triglicerídeos/biossíntese , Lipectomia/métodos , Estudos de Casos e Controles , Transtornos do Metabolismo dos Lipídeos/complicações , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Abdominoplastia/efeitos adversos , Abdominoplastia/métodos , Metabolismo
14.
Curr Opin Lipidol ; 30(2): 56-62, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30720493

RESUMO

PURPOSE OF REVIEW: To examine recent advances in our knowledge on the diagnosis of lipid disorders. RECENT FINDINGS: Fasting values above the 99th percentile for direct LDL-cholesterol (LDL-C), lipoprotein(a), and triglycerides are greater than 225 mg/dl, greater than 160 mg/dl, and greater than 500 mg/dl (>5.82, >394, and >5.65 mmol/l), respectively, whereas such values for plasma lathosterol, ß-sitosterol, and cholestanol are greater than 8.0, 8.0, and 5.0 mg/l (>0.021, 0.019, and 0.013 mmol/l), respectively. Values below the first percentile for LDL-C are less than 40 mg/dl (<1.03 mmol/l) and for HDL-cholesterol (HDL-C) less than 25 mg/dl (<0.65 mmol/l) in men and less than 30 mg/dl (<0.78 mmol/l) in women, respectively. The above values can predispose to premature CVD, pancreatitis, neurologic disease, and kidney failure, and may be associated with monogenic lipid disorders. In the absence of secondary causes including diabetes or kidney, liver, or thyroid disease, consideration should be given to sequencing the following genes: ABCA1, ABCG5, ABCG8, APOA1, APOA5, APOB, APOC2, APOE, CETP, CYP27A1, GPIHBP1, LCAT, LDLR, LDLRAP1, LIPA, LIPC, LMF1, LPL, MTTP, PCSK9, SCARB1, and STAP1. SUMMARY: Recent data indicate that secondary causes and a wider range of conditions need to be considered in identifying the underlying causes of hypercholesterolemia, hypertriglyceridemia, hyperalphalipoproteinemia, hypobetalipoproteinemia, and HDL deficiency. Identifying such disorders allows for a more precise assessment of prognosis and the formulation of optimal therapy.


Assuntos
Apolipoproteínas/genética , Doenças Cardiovasculares/diagnóstico , LDL-Colesterol/sangue , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Lipoproteína(a)/genética , Pancreatite/diagnóstico , Receptores de Lipoproteínas/genética , Apolipoproteínas/sangue , Biomarcadores/sangue , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/genética , Colestanol/sangue , Colesterol/sangue , Jejum , Expressão Gênica , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Transtornos do Metabolismo dos Lipídeos/sangue , Transtornos do Metabolismo dos Lipídeos/complicações , Transtornos do Metabolismo dos Lipídeos/genética , Lipoproteína(a)/sangue , Mutação , Pancreatite/sangue , Pancreatite/etiologia , Pancreatite/genética , Receptores de Lipoproteínas/sangue , Sitosteroides/sangue , Triglicerídeos/sangue
15.
Pathology ; 51(2): 193-201, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30598327

RESUMO

Rare genetic lipid disorders affect the levels of cholesterol and/or triglyceride in the circulation and, if untreated, can often lead to severe multisystem complications. The field of rare lipid disorders is evolving and increasing awareness of these conditions, along with the systematic integration of recent advances or knowledge into clinical practice, is crucial to improve patient outcomes. The aim of this review is to provide an overview of selected rare genetic lipid disorders, focusing on the recommended diagnostic strategies and contemporary treatment and management options.


Assuntos
Transtornos do Metabolismo dos Lipídeos/diagnóstico , Metabolismo dos Lipídeos , Doenças Raras/diagnóstico , Colesterol/metabolismo , Humanos , Transtornos do Metabolismo dos Lipídeos/genética , Transtornos do Metabolismo dos Lipídeos/terapia , Doenças Raras/genética , Doenças Raras/terapia , Triglicerídeos/metabolismo
16.
Curr Opin Lipidol ; 30(2): 71-81, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30676533

RESUMO

PURPOSE OF REVIEW: With improved next-generation sequencing technology, open-access genetic databases and increased awareness of complex trait genetics, we are entering a new era of risk assessment in which genetic-based risk scores (GRSs) will play a clinical role. We review the concepts underlying polygenic models of disease susceptibility and challenges in clinical implementation. RECENT FINDINGS: Polygenic risk scores are currently used in genetic research on dyslipidemias and cardiovascular disease (CVD). Although the underlying principles for constructing polygenic scores for lipids are established, the lack of consensus on which score to use is indicated by the large number - about 50 - that have been published. Recently, large-scale polygenic scores for CVD appear to afford superior risk prediction compared to small-scale scores. Despite the potential benefits of GRSs, certain biases towards ethnicity and sex need to be worked through. SUMMARY: We are on the verge of clinical application of GRSs to provide incremental information on dyslipidemia and CVD risk above and beyond traditional clinical variables. Additional work is required to develop a consensus of how such scores will be constructed and measured in a validated manner, as well as clinical indications for their use.


Assuntos
Apolipoproteínas/genética , Doenças Cardiovasculares/genética , LDL-Colesterol/sangue , Transtornos do Metabolismo dos Lipídeos/genética , Lipoproteína(a)/genética , Receptores de Lipoproteínas/genética , Apolipoproteínas/sangue , Bibliometria , Biomarcadores/sangue , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/etiologia , Expressão Gênica , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Transtornos do Metabolismo dos Lipídeos/sangue , Transtornos do Metabolismo dos Lipídeos/complicações , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Lipoproteína(a)/sangue , Mutação , Receptores de Lipoproteínas/sangue , Medição de Risco , Triglicerídeos/sangue
17.
Vet Pathol ; 56(2): 282-288, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30244665

RESUMO

The Quaker parrot has been used as a psittacine model to study clinical lipidology and lipid-related disorders. However, while Quaker parrots appear to be anecdotally susceptible to a variety of spontaneous dyslipidemic disorders and lesions caused by excess lipid accumulation, epidemiologic data are lacking. A multicenter retrospective study on 652 pathology submissions (411 necropsies and 243 biopsies) from Quaker parrots was performed by recording the final pathological diagnoses, age, and sex for each bird. The prevalence of lesions associated with lipid metabolism, such as hepatic lipidosis, atherosclerosis, xanthomas, adipose tumors, coelomic steatitis/steatonecrosis, endogenous lipid pneumonia, and acute pancreatic necrosis/pancreatitis, was reported. Multiple logistic regression models were used to characterize the effects of sex and age on these lesions, and the prevalence of hepatic lipidosis and atherosclerosis was compared to those in a random sample of control psittacine birds. The raw prevalence of atherosclerosis and hepatic lipidosis was 5.6% (95% confidence interval [CI], 3.4%-7.8%) and 21.2% (95% CI, 17.2%-25.1%), respectively. While the prevalence of atherosclerosis was similar to other psittacine species, hepatic lipidosis was more common in Quaker parrots. Quaker parrots also showed a unique susceptibility to acute pancreatic necrosis with a prevalence of 12.9% (95% CI, 9.7%-16.1%). Male parrots were found to be more susceptible than females to lipid accumulation lesions ( P = .0024), including atherosclerosis ( P = .018) and hepatic lipidosis ( P < .001). This retrospective study confirms the high susceptibility of Quaker parrots to lipid-related disorders and presents epidemiological data that may be useful to avian clinicians, pathologists, and researchers using Quaker parrots.


Assuntos
Doenças das Aves/patologia , Transtornos do Metabolismo dos Lipídeos/veterinária , Papagaios , Animais , Aterosclerose/diagnóstico , Aterosclerose/patologia , Aterosclerose/veterinária , Doenças das Aves/diagnóstico , Feminino , Metabolismo dos Lipídeos , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Transtornos do Metabolismo dos Lipídeos/patologia , Lipidoses/diagnóstico , Lipidoses/patologia , Lipidoses/veterinária , Hepatopatias/diagnóstico , Hepatopatias/patologia , Hepatopatias/veterinária , Masculino , Pneumonia Lipoide/diagnóstico , Pneumonia Lipoide/patologia , Pneumonia Lipoide/veterinária , Estudos Retrospectivos , Fatores Sexuais
19.
Rev. mex. cardiol ; 29(2): 74-82, Apr.-Jun. 2018. tab
Artigo em Inglês | LILACS | ID: biblio-1020704

RESUMO

Abstract: Obesity is considered as a valid risk factor for cardiovascular disease, due to the fact that the risk of morbidity and mortality from various causes in obese people is significantly higher. Exact mechanisms of metabolic disorders in hypertension with obesity is still discussible. The aim of the study - to determine the peculiarities of carbohydrate, lipid metabolism changes and activity of adipokines and interleukin-22, in patients with hypertension according to nutritional status. Methods: 80 patients (37 males and 43 females) with essential hypertension (EH) of average age 60.17 years were examined. Carbohydrate, lipid profiles, apolipoprotein B (apo B), tumor necrosis factor-α (TNF-α), plasminogen activator inhibitor-1 (PAI-1), adiponectin, interleukin-22 (IL-22) were estimated. Results: In patients with EH and obesity was found carbohydrates metabolism abnormalities, that was manifested as hyperinsulinemia, glucose and HbA1c levels elevation and insulin resistance (according to HOMA index). Lipid metabolism disorders were observed as valid increasing of triglycerides and apo B. Body mass index elevation was associated with progressive increasing of TNF-α and PAI-1 concentration with reducing of adiponectin level in the patients with EH. Positive relationships between TNF- and HbA1c, apo B; PAI-1 with glucose levels: negative correlation adiponectin with body mass and waist to hip ratio were detected in the patients with obesity associated (BMI ≥ 30 kg/m2) EH. Positive significant correlations between apo B and insulin levels, HOMA index, and TNF-α concentration were defined. IL-22 in overweigh and obese patients was significantly higher, correlates negatively with HDL-C. Conclusion: In patients with EH and obesity the adipokine dysfunction was revealed, that correlates with carbohydrate and lipid parameters that indicate increased proinflammatory and prothrombogenic processes.(AU)


Resumen: La obesidad se considera un factor de riesgo válido para las enfermedades cardiovasculares, debido a que el riesgo de morbilidad y mortalidad por diversas causas en personas obesas es significativamente mayor. Los mecanismos exactos de los trastornos metabólicos en la hipertensión con obesidad todavía son discutibles. El objetivo del estudio - determinar las peculiaridades de los carbohidratos, los cambios en el metabolismo de los lípidos y la actividad de las adipoquinas y la interleucina 22, en pacientes con hipertensión según el estado nutricional. Métodos: Se examinaron 80 pacientes (37 hombres y 43 mujeres) con hipertensión esencial (HE) de edad promedio de 60.17 años. Se estimaron los perfiles de carbohidratos, lípidos, apolipoproteína B (apo B), factor de necrosis tumoral-α (TNF-α), inhibidor activador del plasminógeno-1 (PAI-1), adiponectina, interleucina-22 (IL-22). Resultados: En pacientes con HE y obesidad se encontraron anomalías en el metabolismo de los carbohidratos, que se manifestaron como hiperinsulinemia, elevación de los niveles de glucosa y HbA1c y resistencia a la insulina (según el índice HOMA). Se observaron trastornos del metabolismo de los lípidos como aumento válido de triglicéridos y apo B. La elevación del índice de masa corporal se asoció con el aumento progresivo de la concentración de TNF-α y PAI-1 con la reducción del nivel de adiponectina en los pacientes con HE. Relaciones positivas entre TNF- y HbA1c, apo B; PAI-1 con niveles de glucosa: se detectaron correlaciones negativas de adiponectina con masa corporal y relación cintura-cadera en los pacientes con obesidad (IMC ≥ kg/m2) asociada con HE. Se definieron correlaciones positivas significativas entre los niveles de apo B e insulina, el índice HOMA y la concentración de TNF-α. La IL-22 en pacientes con sobrepeso y obesos fue significativamente mayor, se correlaciona negativamente con HDL-C. Conclusión: En pacientes con HE y obesidad se reveló la disfunción de la adipoquina, que se correlaciona con parámetros de carbohidratos y lípidos que indican un aumento de los procesos proinflamatorios y protrombogénicos.(AU)


Assuntos
Humanos , Estado Nutricional , Interleucinas/metabolismo , Transtornos do Metabolismo dos Lipídeos/diagnóstico , Adipocinas/metabolismo , Hipertensão/fisiopatologia , Obesidade/complicações
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