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Pintaudi B.,Fondazione Mario Negri Sud | Nicolucci A.,Fondazione Mario Negri Sud | Nicolucci A.,Laboratory of Clinical Epidemiology of Diabetes and Chronic Diseases
Frontiers in Diabetes | Year: 2015

Self-monitoring of blood glucose (SMBG) is an integral component of diabetes care for patients with type 1 diabetes mellitus (T1DM). It is an essential tool for the improvement of glycemic control and to increase patient empowerment and adherence to treatment. The standard recommended frequency of SMBG in T1DM is 3-4 times daily, even though many patients might require more frequent monitoring in special conditions. The frequency of testing should be agreed upon by the patients and their healthcare teams. As a general rule, more blood glucose tests are needed as the therapy becomes more intensive. People using insulin pump therapy should perform SMBG at least 4-6 times daily, and especially during establishment of pump therapy. To confirm hypoglycemia, patients must perform SMBG and repeat it every 15 min until euglycemia. Patients undergoing frequent asymptomatic hypoglycemia should perform SMBG more often. During intercurrent illness, patients need to monitor their blood glucose levels at least every 4 h, or every 2 h when blood glucose levels keep rising, to avoid diabetic ketoacidosis. With physical activity, patients should perform SMBG before, during, and after exercise. While driving, SMBG should be performed before leaving and at 2-hour intervals during long journeys. The issue of SMBG in women with T1DM deserves specific attention, especially during the menstrual period, preconception time, pregnancy (at least 7 tests/day), and breastfeeding. © 2015 S. Karger AG, Basel.

Carecchio M.,University College London | Carecchio M.,University of Piemonte Orientale | Magliozzi M.,CSS Mendel Laboratory | Copetti M.,Biostatistics Unit | And 12 more authors.
Movement Disorders | Year: 2013

Mutations or exon deletions of the epsilon-sarcoglycan (SGCE) gene cause myoclonus-dystonia (M-D), but a subset of M-D patients are mutation-negative and the sensitivity and specificity of current genetic testing criteria are unknown. We screened 46 newly enrolled M-D patients for SGCE mutations and deletions; moreover, 24 subjects previously testing negative for SGCE mutations underwent gene dosage analysis. In our combined cohorts, we calculated sensitivity, specificity, positive and negative predictive values, and area under the curve of 2 published sets of M-D diagnostic criteria. A stepwise logistic regression was used to assess which patients' characteristics best discriminated mutation carriers and to calculate a new mutation predictive score ("new score"), which we validated in previously published cohorts. Nine of 46 (19.5%) patients of the new cohort carried SCGE mutations, including 5 novel point mutations and 1 whole-gene deletion; in the old cohort, 1 patient with a complex phenotype carried a 5.9-Mb deletion encompassing SGCE. Current diagnostic criteria had a poor ability to discriminate SGCE-positive from SGCE-negative patients in our cohort; conversely, age of onset, especially if associated with psychiatric features (as included in the new score), showed the best discriminatory power to individuate SGCE mutation carriers, both in our cohort and in the validation cohort. Our results suggest that young age at onset of motor symptoms, especially in association with psychiatric disturbance, are strongly predictive for SGCE positivity. We suggest performing gene dosage analysis by multiple ligation-dependent probe amplification (MLPA) to individuate large SGCE deletions that can be responsible for complex phenotypes. © 2013 Movement Disorder Society.

Paroni G.,Geriatric Unit | Seripa D.,Geriatric Unit | Panza F.,Geriatric Unit | Addante F.,Geriatric Unit | And 6 more authors.
Age | Year: 2012

Klotho (KL) gene has been involved in severe alterations of physiological biochemical parameters leading to premature aging-like phenotypes and strikingly shortening lifespan. KL participates to the regulation of a number of intracellular biochemical pathways, including lipid profile and glucose metabolism. Aim of this study was to investigate the possible association between KL locus and biological parameters commonly accepted as indicators of the clinical status in hospitalized older patients. We genotyped the single-nucleotide polymorphisms (SNPs) rs9536314, rs1207568, and rs564481 at the KL locus in 594 hospitalized older patients (65-99 years), consecutively attending a geriatric ward, and tested the association of these KL variants with biological quantitative traits using analyses of covariance and genetic risk score models. Significant associations of rs9536314 with serum levels of hemoglobin, albumin, and high-density lipoprotein cholesterol (HDL-C) as well as significant associations of rs564481 with serum levels of hemoglobin, fasting insulin, and fasting glucose were observed. Gender-segregated analyses confirmed these associations, and suggested that the associations of KL genotypes with HDL-C, fasting glucose and fasting insulin levels may be driven by the female gender, while the association with serum levels of hemoglobin may be driven by the male gender. The association of KL genotypes with creatinine levels was found only in females, while the association with insulin-like growth factor-1 (IGF-1) and lymphocytes count (LC) was found only in males. The genetic risk score (GRS) models further confirmed significant associations among KL SNPs and hemoglobin, total cholesterol, and HDL-C. Gender-segregated analyses with the GRS-tagged approach confirmed the associations with HDL-C, fasting glucose, and fasting insulin levels in females, and with hemoglobin and LC in males. Our findings suggested that KL locus may influence quantitative traits such as serum levels of lipid, fasting glucose, albumin and hemoglobin in hospitalized older patients, with some gender differences suggested for creatinine, IGF-1 levels, and LC, thus being one of the genetic factors possibly contributing to age-related diseases and longevity. © The Author(s) 2011.

Guarnieri V.,IRCCS Casa Sollievo Della Sofferenza Hospital | Valentina D'Elia A.,Medical Genetics Institute | Baorda F.,IRCCS Casa Sollievo Della Sofferenza Hospital | Pazienza V.,IRCCS Casa Sollievo Della Sofferenza Hospital | And 13 more authors.
Molecular Genetics and Metabolism | Year: 2012

Background: Autosomal dominant hypocalcemia (ADH) is an endocrine disorder caused by activating mutations of the calcium-sensing receptor (CASR) gene which plays a major role in maintaining calcium homeostasis. Biochemical features of ADH are hypocalcemia and hypercalciuria with inappropriately low levels of parathyroid hormone (PTH). We report on two four-generation families affected by ADH. Aim: To identify mutations of CASR gene in subjects affected by familial idiopathic hypoparathyroidism. To perform functional assays of identified CASR variants by transient transfection on HEK293 cells. Results: We identified two CASR variants (Q681R and P221L): the Q681R variant was novel while the P221L had been previously published. Functional assays on the Q681R variant showed that it did not alter the whole expression nor the correct plasmamembrane localization, but enhanced the signaling function, increasing the sensitivity of the receptor as compared to the WT. Conclusions: We report two activating CASR mutations in two families affected by ADH and the functional assays performed on the novel variant Q681R. Our work enlarged the spectrum of mutations of the CASR and contributed to a better elucidation of the protein function. © 2012 Elsevier Inc.

Pilotto A.,Geriatrics Unit | Gallina P.,Health Services Directorate | Fontana A.,Unit of Biostatistics | Sancarlo D.,Gerontology and Geriatrics Research Laboratory | And 9 more authors.
Journal of the American Medical Directors Association | Year: 2013

Objectives: To develop and validate a Multidimensional Prognostic Index (MPI) for mortality based on information collected by the Multidimensional Assessment Schedule (SVaMA), the recommended standard tool for multidimensional assessment of community-dwelling older subjects in seven Italian regions. Design: Prospective cohort study. Participants: Community-dwelling subjects older than 65 years who underwent an SVaMA evaluation from 2004 to 2010 in Padova Health District, Veneto, Italy. Measurements: The MPI-SVaMA was calculated as a weighted (weights were derived from multivariate Cox regressions) linear combination of the following nine domains: age, sex, main diagnosis, and six scores, ie, the Short Portable Mental Status Questionnaire, the Barthel index (contains two domains: activities of daily living and mobility), the Exton-Smith scale, the Nursing Care Needs, and the Social Network Support by a structured interview. Subjects were followed for a median of 2 years; those who had not died were followed for at least 1 year. The MPI-SVaMA score ranged from 0 to 1 and 3 grades of severity of the MPI-SVaMA were calculated on the basis of estimated cutoffs. Discriminatory power and calibration were further assessed. Results: A total of 12,020 subjects (mean age 81.84 ± 7.97 years) were included. Two random cohorts were selected: (1) a development cohort, ie, 7876 subjects (mean age 81.79 ± 8.05, %females: 63.1) and (2) a validation cohort, ie, 4144 subjects (mean age: 81.95 ± 7.83, %females: 63.7).The discriminatory power for mortality of MPI-SVaMA was 0.828 (95% CI 0.817-0.838) and 0.832 (95% CI 0.818-0.845) at 1 month and 0.791 (95% CI 0.784-0.798) and 0.792 (95% CI 0.783-0.802) at 1 year in development and validation cohorts, respectively. MPI-SVaMA results were well calibrated showing lower than 10% differences between predicted and observed mortality, both in development and validation cohorts. Conclusions: The MPI-SVaMA is an accurate and well-calibrated prognostic tool for mortality in community-dwelling older subjects, and can be used in clinical decision making. © 2013 American Medical Directors Association, Inc.

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