RESUMO
Familial Hypercholesterolemia (FH) is an autosomal, dominant, inherited disorder characterized by severely elevated LDL-cholesterol (LDL-C) levels with high risk for Coronary Artery Disease (CAD). There are limited genetic studies especially on genes other than Low Density Lipoprotein receptor (LDLR) conducted in Indian population. Thus, our aim was to screen the entire Proprotein Convertase Subtilisin/Kexin type 9 gene (PCSK9) gene & hotspot exons 3, 4 and 9 of LDLR gene in FH cases and controls. 50 FH cases were categorized into definite, probable and possible cases according to Dutch Lipid Network Criteria (DLNC) who were gender matched with 50 healthy controls. All 12 exons of PCSK9, and hotspot exons 3, 4 & 9 of LDLR gene were screened through High Resolution Melt (HRM) curve analysis. Enzyme linked immunosorbent assay was performed to measure circulating PCSK9 levels. Total cholesterol and LDL-C were significantly high in all three groups of cases. Total 8 nonpathogenic variants in exon 1, 5, 7 and 9 of the PCSK9 gene were detected. In LDLR gene, 3 known pathogenic and 1 benign variant were found in exon 3 & 4. In FH cases, PCSK9 levels were significantly high compared to controls (P = 0.0001), and were directly correlated to LDL-C (P = 0.0001) and Total Cholesterol (P = 0.0001). Our study is first to screen the entire PCSK9 gene in western part of India. Since no pathogenic variants were identified, it is possible that PCSK9 variants are clinically less relevant. However, 3 known pathogenic variants were found in the LDLR gene. These findings support our understanding of the genetic spectrum of FH in India.
Assuntos
Predisposição Genética para Doença , Hiperlipoproteinemia Tipo II/genética , Pró-Proteína Convertase 9/genética , Receptores de LDL/genética , Adulto , Povo Asiático/genética , LDL-Colesterol , Éxons/genética , Feminino , Variação Genética/genética , Humanos , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/patologia , Índia/epidemiologia , Masculino , Pessoa de Meia-Idade , Mutação/genética , FenótipoRESUMO
Since the advent of automation in the field of hematological cell counters there has been a constant refinement of the technology and increase in the number of newer parameters available on CBC analysers. Many novel parameters are being put into routine clinical use and both clinical evaluation and monitoring critically depend on knowledge of laboratory reference ranges. Here, we present reference interval for the Sysmex XE-2100, with emphasis on the novel or newer research parameters. Blood samples from a total of 122 clinically asymptomatic and apparently healthy subjects were evaluated and a final of 100 subjects (54-M, 46-F) were included in the study. A broad spectrum of parameters available with the analyser was assessed and reference ranges for the same evaluated.
Assuntos
Automação Laboratorial/métodos , Contagem de Células Sanguíneas/métodos , Células Sanguíneas/fisiologia , Valores de Referência , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
A 74 year old male patient with weight loss, diarrohea, loss of appetite, anemia, thrombocytopenia and culture negative endocarditis was diagnosed to have Whipple's disease. We are reporting this case, as it is a rare disease with fewer than 1000 validated cases reported in literature.
