Vitamin D receptor polymorphisms and falls among older adults living in the community: results from the ilSIRENTE study.

Vitamin D receptor (VDR) genotypes were associated with cognitive status, depressive symptoms, strength, and sarcopenia, but, thus far, no study has assessed their relationship with falls. The objective of this study is to evaluate whether, in a population of older adults living in the community, VDR FokI and BsmI genotypes are associated with falls. To this aim, we used data from the baseline evaluation of the ilSIRENTE study, which enrolled older adults >or= 80 yr of age living in the community in Italy.

Insulin-like growth factor I (CA) repeats are associated with higher melanoma's Breslow index but not associated with the presence of the melanoma. A pilot study.

Background: IGF-I-(CA) repeats have been previously analysed in few types of cancer and the results, although discordant in different studies, showed possible associations between cancer and IGF-I(CA)(19) repeats. Aim of this pilot study was to detect a possible association between some of the IGF-I(CA) repeats and the presence of malignant melanoma and its Breslow index.

Methods: Two hundred patients affected with cutaneous malignant melanoma and 100 control healthy subjects were analysed for IGF-I(CA) repeats by fragment analysis sequencing and, partially, confirmed by direct sequencing.

Correspondence between clinical improvement and proteomic changes of the salivary peptide complex in a child with primary Sjögren syndrome.

The aberrant induction of salivary/lacrimal proteins is considered to be crucial in the pathogenesis of sicca-symptoms related to primary Sjögren syndrome (SS). We report the case of an 11-year-old boy who was admitted to hospital due to recurrent bilateral parotid gland enlargement and keratoconjunctivitis, which were diagnosed as primary SS upon a combination of laboratory and instrumental tests. The proteomic analysis of the salivary peptide complex in the patient's salivary fluid near diagnosis and after 6 months of pharmacological therapy revealed quantitative and mostly qualitative differences.

Glucose-6-phosphate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency.

Objective: : Glucose 6-phosphate dehydrogenase (G6PD) catalyzes the first committed steps in the pentose phosphate pathway: the generation of NADPH by this enzyme is essential for protection against oxidative stress. The human enzyme is in a dimer<-->tetramer equilibrium and its stability depends on NADP(+) concentration. Herein, we report a case of a symptomatic baby affected by severe deficiency of G6PD activity due to a novel de novo genetic mutation (g1465C>T) in the thirteenth exon of its gene.

First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy.

Objectives: To report a first case of 21-hydroxylase deficiency associated with a new genotype determined by V281+I172N/V281L mutations of the CYP21A2 gene.

Design And Methods: Direct genetic sequencing of CYP21A2 gene was performed.

Results: Both siblings had the same genotype, namely V281+I172N/V281L, while their parents resulted as V281L and V281+I172N carriers, respectively.

Serum high-density lipoprotein cholesterol levels and mortality in frail, community-living elderly.

Background: High-density lipoprotein (HDL) cholesterol has been hypothesized to be a reliable marker of frailty and poor prognosis among the oldest elderly.

Objective: In the present study, we evaluate the impact of HDL cholesterol on the risk of all-cause mortality in a large population of frail octogenarians and nonagenarians living in a community.

Methods: We analyzed data from the Aging and Longevity Study in the Sirente geographic area (ilSIRENTE Study), a prospective cohort study that collected data on all subjects aged 80 year and older living in a mountain community (n = 359).

Association of calcium channel blocker use and pregnancy-associated plasma protein-A among older adults with hypertension: results from the ilSIRENTE study.

Background: Pregnancy-associated plasma protein A (PAPP-A) is a zinc-binding matrix metalloproteinase (MMP) that was shown to increase in acute coronary syndromes. Calcium channel blockers (CCB) can influence the production of several MMPs, but no study, so far, has assessed the association between use of CCB and PAPP-A levels. The aim of the present cross-sectional study was to evaluated if, among older hypertensive adults, PAPP-A levels differ according to use of CCB.

Mannose-binding lectin polymorphisms and pulmonary outcome in premature neonates: a pilot study.

Objective: Mannose-binding lectin (MBL2) is a collectin molecule able to activate the complement system and the subsequent inflammatory mechanisms. Several MBL2 genetic variants have been described, including the six variants studied in this report, which are those analyzed in most detail in the medical literature.

Design: The present study analyzes the prevalence of MBL2 gene variants in preterm newborns and associates individual genotypes with pulmonary outcome variables.

Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency.

We report a case of an asymptomatic young subject affected by severe deficiency of Glucose 6-phosphate dehydrogenase (G6PD) activity. A novel genetic mutation (G130A) in the third exon was found. We named this novel mutation the "G6PD RIGNANO variant".

Association of periodontitis with GSTM1/GSTT1-null variants--a pilot study.

Objectives: To analyze a possible association between glutathione-S-transferase T1 (GSTM1) and/or glutathione-S-transferase M1 (GSTM1) polymorphisms and chronic or aggressive forms of periodontitis in a Caucasian ethnic group.

Design And Methods: Sixty-nine chronic, 14 aggressive periodontitis and 61 controls, deeply analyzed from a clinical point of view, were studied for their GSTM1 and GSTT1 polymorphisms by allelic specific PCR techniques. As a second control group, 64 blood donors were also included.

Insulin-like growth factor-binding protein 3 and hemoglobin concentration in older persons living in the community.

A decreased hemoglobin concentration is a common clinical condition in elderly subjects, and in at least 20% of the cases it is not possible to directly attribute the anemia to specific factors. The aim of the present study was to evaluate the relationship of different levels of insulin-like growth factor-binding protein 3 (IGFBP-3) with the blood concentration of hemoglobin in persons aged 80 years and older. Data are from a baseline evaluation of the Aging and Longevity in the Sirente Geographic Area (ilSIRENTE) study (n=253).

Proteomic analysis of salivary acidic proline-rich proteins in human preterm and at-term newborns.

A 1 year follow-up investigation of salivary acidic proline-rich proteins (aPRPs) in preterm and at-term newborns using HPLC-ESI-IT-MS showed that (i) this class of proteins is constitutive rather than inducible, as it is still found in the oral cavity of preterm newborns from 180 days of postconception age (PCA); (ii) the expression of PRH-2 locus anticipates that of PRH-1, since Db isoforms are expressed some months after the PRP-1 and PRP-2 isoforms. The evaluation of the relative abundances of the different aPRPs isoforms and derivatives (differently phosphorylated and cleaved) as a function of PCA showed that (iii) the proteolytic enzymes generating truncated isoforms are also constitutive because they are fully active since 180 days of PCA; (iv) the kinase involved in aPRP phosphorylation is not fully mature in preterm newborns, but its activity increases with PCA, synchronizing with that of at-term newborns and reaching the adult levels at about 500-600 days of PCA, in concomitance with the beginning of deciduous dentition.

Use of ACE inhibitors is associated with elevated levels of IGFBP-3 among hypertensive older adults: results from the IlSIRENTE study.

Objective: Several studies in vitro or in rodent models have suggested a potential relationship between angiotensin-converting enzyme (ACE) inhibition and the insulin-like growth factor 1 (IGF-1) axis. However, this relationship has only rarely been investigated in humans. The aim of the present cross-sectional study was to assess the association of ACE inhibitors with free IGF-1 and IGFBP-3 in the blood of older hypertensive adults.

First report of macrophage activation syndrome in hyperimmunoglobulinemia D with periodic fever syndrome.

We describe for the first time a case of macrophage activation syndrome in a child with hyperimmunoglobulinemia D with periodic fever syndrome who required intensive care support. Up-regulated monokine production, high serum levels of triglycerides and ferritin, clotting abnormalities with hypofibrinogenemia, and rapidly evolving pancytopenia should alert the clinician to the possible diagnosis of macrophage activation syndrome, even in autoinflammatory diseases characterized basically by the periodic recurrence of unprovoked inflammatory attacks. Bone marrow aspiration showing well-differentiated macrophages phagocytosing hematopoietic elements remains the main tool for a final diagnosis, and cyclosporine is the best strategy for treatment.

Association between cutaneous melanoma, Breslow thickness and vitamin D receptor BsmI polymorphism.

Background: Literature data report an association between some vitamin D receptor (VDR) polymorphisms and different kinds of tumours, including malignant melanoma (MM). Only three VDR polymorphisms (FokI, TaqI and A-1012G) have been investigated in association with the presence of cutaneous MM or the development of metastases.

Objectives: The present paper analyses for the first time the association between BsmI polymorphism and MM prevalence together with Breslow thickness.

Free insulin-like growth factor-I and cognitive function in older persons living in community.

Context: Increasing evidences from experimental and human studies suggest that the activity of the growth hormone (GH/insulin-like growth factor-I) axis may contribute to the age-related cognitive decline and poor cognition in late life.

Objective: The aim of the present study was to evaluate the relationship of total serum free IGF-I and its binding protein-3 with cognitive performance in older persons aged 80 years or older.

Design: Data are from baseline evaluation of the ilSIRENTE study (n=353).

Genetic analysis of the dystroglycan gene in bronchopulmonary dysplasia affected premature newborns.

Background: Dystroglycan (DG) is an extracellular matrix receptor that serves as an adhesion molecule and is essential for the stability of the plasma membrane. DG is highly expressed within the epithelial cell layer where it supports morphogenesis, adhesion and wound repair. Mechanically ventilated newborns often develop bronchopulmonary dysplasia (BPD), characterized by a progressive impairment of wound repair capacity in their lung.

Association between serum free IGF-I and IGFBP-3 levels in type-I diabetes patients affected with associated autoimmune diseases or diabetic complications.

Background: Patients with type 1 diabetes (T1DM) present lower serum free IGF and IGFBP-3 values than healthy people. T1DM patients often present with associated autoimmune diseases such as thyroiditis or coeliac disease, and over time they frequently develop proliferative retinopathy, neuropathy or nephropathy in different combinations.

Objective: The aim of this study was to evaluate the effect of two associated autoimmune diseases or three diabetic complications on the serum free IGF-I or IGFBP-3 levels in T1DM patients, who also have a family history of T1DM.

GSTT1 and GSTM1 allelic polymorphisms in head and neck cancer patients from Italian Lazio Region.

Background: The association between head and neck squamous cell carcinoma (HNSCC) and allelic variants of glutathione S-transferase M1 (GSTM1) and -T1 (GSTT1) is currently controversial. The present study investigates the prevalences of GSTT1 and GSTM1 polymorphism in a cohort of 100 head and neck cancer patients, 100 healthy donors and 200 controls with non-neoplastic head and neck diseases from Italian Lazio Region.

Methods: The patients with benign head and neck pathologies, as well as the healthy donors were matched for age, sex, cigarette smoke (yes/no) and alcohol consumption (yes/no).

Epithelial lining fluid free IGF-I-to-PAPP-A ratio is associated with bronchopulmonary dysplasia in preterm infants.

Preterm newborns developing retinopathy of prematurity (ROP) and bronchopulmonary dysplasia (BPD) show persistently low levels of insulin-like growth factor-I (IGF-I) in sera. They also present higher free IGF-I concentrations in epithelial lining fluids (ELFs) and lung tissues. Pregnancy-associated plasma protein-A (PAPP-A) is a metalloproteinase that dissociates three binding proteins from the active form of IGF-I, namely free IGF-I.

Inverse correlation between serum free IGF-I and IGFBP-3 levels and blood pressure in patients affected with type 1 diabetes.

Background: Even though the gene encoding for IGF-I is considered of most importance amongst blood pressure-regulating genes in mouse models, little and discordant data are available in literature for what concerns a possible relationship between blood pressure and serum free IGF-I values in humans. In addition, no information is available on type 1 diabetes patients.

Aim: Our aim is to analyze the relationship between systolic and diastolic blood pressure and serum free IGF-I and IGFBP-3 levels in subjects suffering from type 1 diabetes.

Slight association between type 1 diabetes and "ff" VDR FokI genotype in patients from the Italian Lazio Region. Lack of association with diabetes complications.

Background: Vitamin D receptor (VDR) mediates the effects of vitamin D. Our paper evaluates the FokI and BsmI VDR genotypes in 246 Caucasian (Italian from Lazio Region) T1DM patients compared with 246 Caucasian healthy controls, sharing age and gender and regional provenience with the patients. In addition, T1DM patients without complications were compared with those carrying three complications.

Lifetime occupation and physical function: a prospective cohort study on persons aged 80 years and older living in a community.

Background: Several studies have reported predictors for loss of mobility and impairments of physical performance among frail elderly people.

Aim: To evaluate the relationship between lifetime occupation and physical function in persons aged 80 years or older.

Methods: Data are from baseline evaluation of 364 subjects enrolled in the ilSIRENTE study (a prospective cohort study performed in a mountain community in Central Italy).