Unit of Clinical Chemistry

San Giovanni Rotondo, Italy

Unit of Clinical Chemistry

San Giovanni Rotondo, Italy
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Carnevale V.,Unit of Internal Medicine | Inglese M.,Unit of Internal Medicine | Annese M.A.,Unit of Internal Medicine | De Matthaeis A.,Unit of Internal Medicine | And 7 more authors.
Journal of Endocrinological Investigation | Year: 2012

Aim: We investigated inpatients with and without Type 2 diabetes mellitus, aged over 60 yr, to compare their vitamin D status and calcium homeostatic parameters. Materials and methods: We studied 140 patients consecutively admitted to our Internal Medicine Unit during the year 2010 (61 from November to April, 79 from May to October). The sample encompassed 70 patients with and 70 without diabetes. At admission we measured serum calcium (Ca), phosphate (P), sodium (Na), potassium (K), creatinine (Cr), alkaline phosphatase total activity (AP), albumin adjusted serum calcium ( Ca alb adj), 25 hydroxy-vitamin D (25OHD), PTH, and 24-h urinary Na/Cr (uNa/Cr), K/Cr (uK/Cr), Ca/Cr (uCa/Cr), P/Cr (uP/Cr) ratios, and calcium excretion (Ca ex). Results: 25OHD levels of patients with and without diabetes did not significantly differ. In patients without diabetes recruited from November to April, 25OHD levels were significantly lower than those from May to October, whilst patients with diabetes did not show a significant seasonal variation. PTH had opposite non-significant seasonal variations, and negatively correlated with 25OHD in both groups of patients. This correlation was lost after adjusting for age and body mass index in patients with diabetes. These inpatients had higher serum P and lower uP/Cr, according to lower PTH. Their serum glucose negatively correlated with uCa/Cr and Ca ex, contrary to inpatients with other diseases. Instead, uCa/Cr and Ca ex correlated with uNa/Cr only in patients without diabetes. Conclusions: Inpatients with diabetes did differ from those with other disorders for vitamin D status and calcium-phosphate homeostatic mechanism. ©2012, Editrice Kurtis.


Maranghi M.,University of Rome La Sapienza | Prudente S.,Mendel Laboratory | D'Erasmo L.,University of Rome La Sapienza | Morini E.,Research Unit of Diabetes and Endocrine Diseases | And 13 more authors.
Nutrition, Metabolism and Cardiovascular Diseases | Year: 2013

Background and aims: Several studies have reported that the ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) K121Q polymorphism (rs1044498) interacts with increased adiposity in affecting glucose homeostasis and insulin sensitivity. Conversely, one would expect that the amelioration of glucose homeostasis observed after weight loss is modulated by the ENPP1 K121Q polymorphism. The aim of our study was to test such hypothesis, in non-diabetic overweight-obese individuals. Methods and results: Two hundred eleven non-diabetic overweight-obese individuals were studied. Body mass index (BMI), fasting glucose, homeostasis model assessment of insulin resistance (HOMA-IR index) and lipid levels were obtained before and after 6-week lifestyle intervention (LI; diet and exercise) and their changes calculated as baseline minus 6-week values. LI decreased BMI, glucose, HOMA-IR and triglyceride levels (p<0.001 for all). No difference across genotype groups (160KK and 51 KQ or QQ - named as XQ - individuals) was observed in these changes. In a multivariate model, BMI changes predicted fasting glucose changes (β=0.139mmol/L (2.50mg/dl) for 1 unit BMI change, p=0.005). This correlation was not significant among KK individuals (β=0.082; p=0.15), while much steeper and highly significant among XQ individuals (β=0.336; p=0.00008) (p-value for Q121-by-weight loss interaction=0.047). Conclusion: Individuals carrying the ENPP1 Q121 variant are highly responsive to the effect of weight loss on fasting glucose. This reinforces the previously suggested hypothesis that the Q121 variant interacts with adiposity in modulating glucose homeostasis. © 2011 Elsevier B.V.


Badar S.,University of Verona | Busti F.,University of Verona | Ferrarini A.,University of Verona | Xumerle L.,University of Verona | And 11 more authors.
American Journal of Hematology | Year: 2016

Hereditary hemochromatosis, one of the commonest genetic disorder in Caucasians, is mainly associated to homozygosity for the C282Y mutation in the HFE gene, which is highly prevalent (allele frequency up to near 10% in Northern Europe) and easily detectable through a widely available "first level" molecular test. However, in certain geographical regions like the Mediterranean area, up to 30% of patients with a HH phenotype has a negative or non-diagnostic (i.e. simple heterozygosity) test, because of a known heterogeneity involving at least four other genes (HAMP, HJV, TFR2, and SLC40A1). Mutations in such genes are generally rare/private, making the diagnosis of atypical HH essentially a matter of exclusion in clinical practice (from here the term of "non-HFE" HH), unless cumbersome traditional sequencing is applied. We developed a Next Generation Sequencing (NGS)-based test targeting the five HH genes, and applied it to patients with clinically relevant iron overload (IO) and a non-diagnostic first level genetic test. We identified several mutations, some of which were novel (i.e. HFE W163X, HAMP R59X, and TFR2 D555N) and allowed molecular reclassification of "non-HFE" HH clinical diagnosis, particularly in some highly selected IO patients without concurring acquired risk factors. This NGS-based "second level" genetic test may represent a useful tool for molecular diagnosis of HH in patients in whom HH phenotype remains unexplained after the search of common HFE mutations. © 2016 Wiley Periodicals, Inc.


PubMed | University of Verona, Unit of Clinical Chemistry and Unit of Pathology
Type: Journal Article | Journal: American journal of hematology | Year: 2016

Hereditary hemochromatosis, one of the commonest genetic disorder in Caucasians, is mainly associated to homozygosity for the C282Y mutation in the HFE gene, which is highly prevalent (allele frequency up to near 10% in Northern Europe) and easily detectable through a widely available first level molecular test. However, in certain geographical regions like the Mediterranean area, up to 30% of patients with a HH phenotype has a negative or non-diagnostic (i.e. simple heterozygosity) test, because of a known heterogeneity involving at least four other genes (HAMP, HJV, TFR2, and SLC40A1). Mutations in such genes are generally rare/private, making the diagnosis of atypical HH essentially a matter of exclusion in clinical practice (from here the term of non-HFE HH), unless cumbersome traditional sequencing is applied. We developed a Next Generation Sequencing (NGS)-based test targeting the five HH genes, and applied it to patients with clinically relevant iron overload (IO) and a non-diagnostic first level genetic test. We identified several mutations, some of which were novel (i.e. HFE W163X, HAMP R59X, and TFR2 D555N) and allowed molecular reclassification of non-HFE HH clinical diagnosis, particularly in some highly selected IO patients without concurring acquired risk factors. This NGS-based second level genetic test may represent a useful tool for molecular diagnosis of HH in patients in whom HH phenotype remains unexplained after the search of common HFE mutations.

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