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1.
J Clin Lipidol ; 12(5): 1151-1156, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30201532

RESUMO

A 29-year-old lady was diagnosed with lecithin:cholesterol acyltransferase (LCAT) deficiency having presented with bilateral corneal clouding, severely reduced high density lipoproteins cholesterol, and proteinuria. She is a compound heterozygote with two LCAT gene mutations, one of which is novel, c.321C>A in exon 3. Surprisingly, the level of proteinuria significantly improved during pregnancy, despite stopping the angiotensin-converting enzyme inhibitor. However, LCAT concentration and activity remained identical during pregnancy and postpartum. Her pregnancy was complicated by rising triglyceride levels from the second trimester requiring treatment with omega-3 fatty acid and fenofibrate. In the last trimester, a further complication arose when she became hypertensive and proteinuria worsened. She was diagnosed with pre-eclampsia and had an emergency cesarean section at 39 weeks delivering a healthy baby. This case adds to the knowledge of the pathophysiology of LCAT deficiency during pregnancy and will be useful in future patient management.


Assuntos
Deficiência da Lecitina Colesterol Aciltransferase/complicações , Complicações na Gravidez/terapia , Proteinúria/complicações , Proteinúria/terapia , Adulto , Feminino , Humanos , Gravidez , Complicações na Gravidez/sangue , Proteinúria/sangue , Triglicerídeos/sangue
2.
Diabetes ; 54(9): 2779-86, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16123369

RESUMO

Blood levels of inflammatory markers associated with endothelial dysfunction and atherosclerosis are increased in diabetic patients; the highest levels occur in poorly controlled diabetes. We investigated the activation state of peripheral blood monocytes in diabetes with respect to scavenger receptor (CD36) expression and monocyte chemoattractant protein-1, intracellular adhesion molecule-1, vascular cell adhesion molecule-1, and peroxisome proliferator-activated receptors mRNA expression. CD14(+) monocytes were isolated from peripheral blood of type 1 and type 2 diabetic patients with good (HbA(1c) <7.0%) or poor (>9.4%) glycemic control and a group of nondiabetic subjects. Monocytes from diabetic subjects displayed increased CD36 cell surface expression (P < 0.0005) and increased uptake of oxidized LDL (P < 0.05). Monocyte chemoattractant protein-1 gene expression was increased in monocytes from both groups of diabetic subjects (P < 0.05). Both CD68 and peroxisome proliferator-activated receptor-gamma gene expression were increased in the poorly controlled diabetic group (P < 0.05 for each), whose monocytes also displayed increased attachment to endothelial monolayers (P < 0.0005 vs. nondiabetic control subjects). In poorly controlled diabetes, CD14(+) monocytes are functionally activated and show some of the differentiation markers associated with macrophages. These monocytes also demonstrate an increased ability for attachment to normal endothelial cells, one of the early stages in atherogenesis.


Assuntos
Antígenos CD36/fisiologia , Diabetes Mellitus/fisiopatologia , Receptores de Lipopolissacarídeos/fisiologia , Monócitos/fisiologia , Adulto , Idoso , Antígenos CD/fisiologia , Antígenos de Diferenciação Mielomonocítica/fisiologia , Biomarcadores , Glicemia/fisiologia , Adesão Celular/fisiologia , Quimiocina CCL2/metabolismo , Feminino , Expressão Gênica/fisiologia , Humanos , Molécula 1 de Adesão Intercelular/metabolismo , Lipoproteínas LDL/sangue , Masculino , Pessoa de Meia-Idade , Receptores Ativados por Proliferador de Peroxissomo/metabolismo , RNA Mensageiro/metabolismo , Receptores de LDL/fisiologia , Molécula 1 de Adesão de Célula Vascular/metabolismo
3.
Ann Clin Biochem ; 43(Pt 6): 488-93, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17132280

RESUMO

BACKGROUND: It is recommended that children receiving intravenous fluids should have frequent biochemical monitoring, in some situations 4-6 hourly. Small changes in sodium must be detected, requiring very high precision from sodium analyses. Some children are monitored using venous blood analysed by indirect ion-selective electrode (ISE) interchangeably with capillary blood analysed by direct ISE. Our aim was to determine whether variability in sample collection together with variability in sodium measurement would lead to results which were unacceptable in the clinical setting. METHODS: Fifty-seven adults had capillary and venous blood analysed for sodium using direct ISE and venous plasma analysed for sodium using indirect ISE. RESULTS: Comparison of capillary blood analysed by direct ISE with venous plasma analysed by indirect ISE demonstrated wide scatter and poor correlation of results: r = 0.36, standard deviation (SD) of the differences 2.7 mmol/L and range of limits of agreement 10.6 mmol/L. Significant biases were observed comparing capillary blood sodium with venous plasma sodium (P < 0.001), and comparing direct ISE with indirect ISE (P < 0.001). CONCLUSIONS: Venous plasma using indirect ISE and capillary blood with direct ISE cannot be used interchangeably to detect small changes in plasma sodium concentrations. To avoid misinterpretation of results when monitoring sodium over short time periods, the use of single methods of sampling and analysis must be strongly encouraged.


Assuntos
Sódio/sangue , Adulto , Capilares , Criança , Humanos , Hiponatremia/prevenção & controle , Soluções Hipotônicas/efeitos adversos , Lactente , Infusões Intravenosas/efeitos adversos , Veias
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