Orru G.,Laboratorio Analisi Chimico Cliniche e Microbiologia |
Faa G.,University of Cagliari |
Pillai S.,University of Cagliari |
Manieli C.,University of Cagliari |
And 5 more authors.
Diagnostic Molecular Pathology | Year: 2010
BRAF is an oncogene that is commonly mutated in both melanomas and papillary thyroid carcinomas (PTCs). Usually, mutations in the codons 600 or 601 lead to constitutive activity in the Ras-mitogen-activated protein kinase pathway and, recently, the BRAF deletion was described as a relevant risk factor for loco-regional PTC lymph node metastasis. For these reasons, BRAF mutations may be considered a key genetic factor for the metastatic progression of PTC and also for other tumors such as melanoma and colon cancer and a new BRAF-specific therapeutic strategy was already suggested. In this report we describe the development of a rapid qualitative fluorescent real-time polymerase chain reaction assay designed for the detection of BRAF deletion using 2 specific molecular beacons. The assay is able to detect in a single tube the homozygous as well the heterozygous genotypes. The procedure combines the great sensitivity of the polymerase chain reaction, the specificity provided by allele-specific molecular beacons, and the throughput of a multicolor fluorescence detection procedure. This technique, together with an earlier described real-time test specific for V600E and K601E will be useful for research and molecular diagnostic laboratories involved in the study of BRAF-related neoplasia. Copyright © 2010 by Lippincott Williams & Wilkins.
Bernardi G.,Fondazione IRCCS Instituto Neurologico Carlo Besta |
Brunati P.,Laboratorio Analisi Chimico Cliniche e Microbiologia |
Biagioli T.,Laboratorio Generale |
Buoro S.,Laboratorio Analisi Chimico Cliniche |
And 8 more authors.
Biochimica Clinica | Year: 2014
The laboratory investigation of CSF has been developed over the years as a diagnostic tool for many neurological diseases. Although minimally invasive, CSF is obtained with a traumatic procedure; therefore, the whole laboratory process should be established to maximize the analytical performance. Based on the review of international guidelines and on the experience developed by members of the SIBioC Working Group, the present document provides practical information for laboratory professionals to better address the CSF analysis in different diagnostic situations. The report faces the pathophysiologic meaning of the determination of biochemical parameters, such as glucose, lactate, albumin, immunoglobulins, β-amyloid, tau protein, and the cellular content, providing also evidence on the proper methodological approach. Quantitative and qualitative CSF parameters useful to diagnose an inflammatory process of the central nervous system are discussed, particularly with reference to multiple sclerosis. Indications on how laboratory data should be presented to meet international recommendations are also included.
Pecoraro V.,Laboratorio Analisi Chimico Cliniche e Microbiologia |
Russo R.M.,Laboratorio Analisi Chimico Cliniche e Microbiologia |
Perricone G.,S.S. Epatologia e Gastroenterologia |
Brenna S.,Laboratorio Analisi Chimico Cliniche e Microbiologia |
Granata S.,Laboratorio Analisi Chimico Cliniche e Microbiologia
Biochimica Clinica | Year: 2015
Hepatic fibrosis is a common response to prolonged liver injury and the liver biopsy is the standard method for assessing it. However, searching for alternative noninvasive approaches is important and immunoenzymatic assays using monoclonal antibodies have been recently developed to investigate the diagnostic utility of serum biomarkers. In this study, we explore the relationship between the grade of liver fibrosis and some biochemical parameters. We considered the following markers: collagen IV (CIV), coliglicin (CG), hyaluronic acid (HA), laminin (LN) and aminoterminal procollagen type III peptide (PIIIP). All markers were analyzed by new chemiluminescence immunoassays. We enrolled 36 patients with liver disease and available liver biopsy data. Furthermore, we compared the serum marker concentrations of patients with those of 16 healthy volunteers. Results showed a significant increase in concentrations of CIV, CG and PIIIP in patients with liver fibrosis. For CIV and PIIIP, a significant difference was also observed among groups with different fibrosis grade. In particular, a significant increase was evident in patients with early fibrosis when compared to patients without fibrosis.
Pigoli G.,Laboratorio Analisi Chimico Cliniche e Microbiologia |
Dorizzi R.M.,Laboratorio Analisi Chimico Cliniche e Microbiologia |
Ferrari F.,Laboratorio Analisi Chimico Cliniche e Microbiologia
Minerva Ginecologica | Year: 2010
Aim. The regulation of the intra- and extracellular pH-values plays an essential role in the metabolism of the human body. Whereas metabolic or respiratory acidosis or alkalosis, which include a deviation from the regular blood pH-range of 7.36 to 7.44, are life-threatening conditions, the so-called latent acidosis is a subclinical condition that is caused mainly by high protein intake. The pathobiochemical effects of chronic latent acidosis can be osteoporosis, diabetes mellitus, hyperuricemia, gout or restricted renal function. Recent data show that a high protein diet poor in alkaline elements (fruits and vegetables) is often associated to a low urine pH, which can lead to osteoporosis. Methods. In order to assess the potential relation between nutrition, urine pH and risk of osteoporosis, we examined the urine pH values related to patients of different age groups during an epidemiologic study which involved 12 086 patients, who had been screened by the Italian National Health Care System (ASL Cremona) in 2007. All patients, male and female, have been divided into three groups: Group 1: 10-44 years of age; Group 2: 45-64 years of age; Group 3: 65-80 years of age. Results. The statistic study showed very important figures which indicate a significant difference between males and females in the second group. The mean value of urine pH was 6.03 in the first female group, vs. 5.79 in the second female group (P<0.001). It has also been observed that the pH values in the first female group were more alkaline than the mean value in the first male group (men usually eat foods rich in proteins and acidifiers). Women belonging to the second group (pH 5.79) show significantly lower values of urine pH, if compared to the second male group (pH 5.88). Since there weren't any significant differences among the three male groups, the figures suggest an important relation between urine pH and endocrine alteration. Conclusion. Since the female second group includes the menopausal period, it is reasonable to consider the oestrogen deficiency as responsible for the drastic decrease in the urine pH values, and, particularly for these groups of women, a nutrition intervention with alkalizing nutrients (fruits and vegetables) or with alkalizing food supplements is necessary.
Signori D.,Laboratorio Analisi Chimico Cliniche e Microbiologia
Rivista Italiana della Medicina di Laboratorio | Year: 2014
Background.: The appropriateness of laboratory test’s request is an operating modality that makes the diagnostic path effective and consequently, efficient, thus avoiding waste of resources. The selection of an exam to complete the diagnostic process not only is derived from principles or appropriateness’s rules but is, above all, imposed by budgetary needs.Methods.: This work describes the sharing of guidelines to be used by prescribers and executors, at local level, in the management of patients with heart failure. We examined the number of blood tests’ requests to evaluate the compliance with the proposed indications and to understand, even in the light of the scientific literature, the potential applications of the determination of natriuretic peptide and its effective diagnostic efficiency.Results.: The appropriate requests of blood tests led to a decrease of ”sentry” analytes, to which were referred the recommendations shared with doctors at local level. Systematic analysis of the prescribed tests and, detailed expenditure amounts, highlighted the growing demand of natriuretic peptide and therefore, the need to act with demand principles in mind. It was drafted a synthetic document to convey pragmatic messages about the appropriateness of the determination of natriuretic peptides and to promote a clinical approach to the patient with signs and symptoms of heart failure.We also showed a “creative” usage of natriuretic peptide in patients with renal impairment that opens new and exciting scenarios.Conclusions.: It is important to carefully follow the progress of tests’ request, especially if they are expensive, and it’s also important to lead to the observation of the international guidelines. It is not always possible to contain the demand for tests that, in practice, provide information that can result into a facilitation of the overall management of the patient.In this case the economic impact assessment must be carried out on a broader scope that will take into account all the activities necessary to a diagnosis and to a treatment. © 2014, Springer-Verlag Italia.
Adipose tissue as an endocrine organ: The diagnostic role of laboratory in obesity and metabolic syndrome [Il tessuto adiposo come organo endocrino: Ruolo della diagnostica di laboratorio nellobesità e nella sindrome metabolica]
Tozzoli R.,Laboratorio Analisi Chimico cliniche e Microbiologia
Rivista Italiana della Medicina di Laboratorio | Year: 2010
Worldwide, the increasing prevalence of obesity and associated complications (metabolic syndrome) are likely to pose a serious challenge to the public health and medical care systems. The obesity state is now considered a low-grade systemic inflammation, induced by different mediators called adipocytokines or adipokines, produced by the white visceral adipose tissue. These molecules are hormone-like factors, cytokines and chemokines, inflammatory markers, enzymes and lipid transporters, and are sintetized by different types of cells: adipocytes, pre-adipocytes, endothelial cells, fibroblast and macrophages. The causes and mechanisms involved in obesity-induced inflammatory state are not fully understood. However the adipokines seem to be the link between obesity, inflammation and obesity-related complications. The present article briefly discusses the pathophysiology of adipose tissue in obesity, the functions of adipokines in normal and pathological conditions, and the role of recent multiplex immunoassay systems for the measurement of adipokine concentrations in serum of obese patients. Addressable bead-based multiplex immunoassays share the sandwich conventional ELISA principle, present similar robustness, accuracy and precision, enable the measurement of multiple adipokines in a single sample (adipose tissue profile or adipome) and are a powerful tool for the diagnosis of obesity and associated complications.
PubMed | Laboratorio Analisi Chimico Cliniche e Microbiologia
Type: Journal Article | Journal: Diagnostic molecular pathology : the American journal of surgical pathology, part B | Year: 2010
BRAF is an oncogene that is commonly mutated in both melanomas and papillary thyroid carcinomas (PTCs). Usually, mutations in the codons 600 or 601 lead to constitutive activity in the Ras-mitogen-activated protein kinase pathway and, recently, the BRAF deletion was described as a relevant risk factor for loco-regional PTC lymph node metastasis. For these reasons, BRAF mutations may be considered a key genetic factor for the metastatic progression of PTC and also for other tumors such as melanoma and colon cancer and a new BRAF-specific therapeutic strategy was already suggested. In this report we describe the development of a rapid qualitative fluorescent real-time polymerase chain reaction assay designed for the detection of BRAF deletion using 2 specific molecular beacons. The assay is able to detect in a single tube the homozygous as well the heterozygous genotypes. The procedure combines the great sensitivity of the polymerase chain reaction, the specificity provided by allele-specific molecular beacons, and the throughput of a multicolor fluorescence detection procedure. This technique, together with an earlier described real-time test specific for V600E and K601E will be useful for research and molecular diagnostic laboratories involved in the study of BRAF-related neoplasia.