Cerebellar vermis abnormalities and cognitive functions in individuals with Williams syndrome.

In Williams syndrome (WS) cerebellar measures were only indirectly related to behavioral outcomes. T1-weighted magnetic resonance images and neuropsychological data were acquired to investigate whether cerebellar vermis differences were present in 12 WS individuals compared with 13 chronological age-matched controls and whether WS cerebellar vermis measures were related to cognitive scores. In WS participants, we observed a significant increase in the volume of the posterior superior cerebellar vermis (lobules VI-VII) and an atypical ratio between width and height of the cerebellar vermis.

Executive functions in intellectual disabilities: a comparison between Williams syndrome and Down syndrome.

Executive functions are a set of high cognitive abilities that control and regulate other functions and behaviors and are crucial for successful adaptation. Deficits in executive functions are frequently described in developmental disorders, which are characterized by disadaptive behavior. However, executive functions are not widely examined in individuals with intellectual disability.

Polymorphic repeat length in the AIB1 gene and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a meta-analysis of observational studies.

Objectives: We carried out a meta-analysis focusing on the relationship between length of AIB1 gene poly-Q repeat domain as a modifier of breast cancer (BC) susceptibility in patients with BRCA1 and BRCA2 mutation carriers.

Data Sources: We searched MEDLINE and EMBASE for all medical literature published until February, 2012.

Study Eligibility Criteria: Studies were included in the meta-analysis if they met all the predetermined criteria, such as: (a) case-control or cohort studies; (b) the primary outcome was clearly defined as BC; (c) the exposure of interest measured was AIB1 polyglutamine repeat length genotype; (d) provided relative risk (RR) or odds ratio (OR) estimates and their 95% confidence intervals (CIs).

Postmenopausal women with carotid atherosclerosis: potential role of the serum calcium levels.

Background And Aim: Studies on the association between serum calcium levels and cardiovascular diseases suggested a causative role for hypercalcemia but other studies showed that even serum calcium levels within normal range could be involved in atherosclerosis. However, while dietary calcium intake does not seem to be related to adverse cardiovascular effects, the association between calcium supplementation and the cardiovascular events has not been fully proven. Our aim was to determine the relation between serum calcium levels, within normal range, and the presence of carotid atherosclerosis in a population in whom investigations on this topic are lacking, the postmenopausal women.

Biomarker discovery by plasma proteomics in familial Brugada Syndrome.

Brugada Syndrome (BS) is a polygenic inherited cardiac disease characterized by life-threatening arrhythmias and high incidence of sudden death. In this study, two-dimensional gel electrophoresis (2D-PAGE) coupled to mass spectrometry (LC-MS/MS) was used to investigate specific changes in the plasma proteome of BS patients and family members sharing the same gene mutation (SCN5AQ1118X), with the aim to identify novel disease biomarkers. Our data demonstrate that the levels of several proteins were significantly altered in BS patients compared with controls.

Embryonic stem cells and inducible pluripotent stem cells: two faces of the same coin?

Embryonic stem cells (ESCs) are derived from the inner cell mass of the blastocysts and are characterized by the ability to renew themselves (self-renewal) and the capability to generate all the cells within the human body. In contrast, inducible pluripotent stem cells (iPSCs) are generated by transfection of four transcription factors in somatic cells. Like embryonic stem cells, they are able to self-renew and differentiate.

On the polarity of buckminsterfullerene with a water molecule inside.

Since the recent achievement of Kurotobi and Murata to capture a water molecule in a C(60) fullerene (Science 2011, 333, 613), there has been a debate about the properties of this H(2)O@C(60) complex. In particular, the polarity of the complex, which is thought to be underlying the easy separation of H(2)O@C(60) from the empty fullerene by HPLC, was calculated and found to be almost equal to that of an isolated water molecule. Here we present our detailed analysis of the charge distribution of the water-encapsulated C(60) complex, which shows that the polarity of the complex is, with 0.

Pemetrexed versus pemetrexed and carboplatin as second-line chemotherapy in advanced non-small-cell lung cancer: results of the GOIRC 02-2006 randomized phase II study and pooled analysis with the NVALT7 trial.

Purpose: To compare efficacy of pemetrexed versus pemetrexed plus carboplatin in pretreated patients with advanced non-small-cell lung cancer (NSCLC).

Patients And Methods: Patients with advanced NSCLC, in progression during or after first-line platinum-based chemotherapy, were randomly assigned to receive pemetrexed (arm A) or pemetrexed plus carboplatin (arm B). Primary end point was progression-free survival (PFS).

Sgk1 enhances RANBP1 transcript levels and decreases taxol sensitivity in RKO colon carcinoma cells.

The serum- and glucocorticoid-regulated kinase (Sgk1) is essential for hormonal regulation of epithelial sodium channel-mediated sodium transport and is involved in the transduction of growth factor-dependent cell survival and proliferation signals. Growing evidence now points to Sgk1 as a key element in the development and/or progression of human cancer. To gain insight into the mechanisms through which Sgk1 regulates cell proliferation, we adopted a proteomic approach to identify up- or downregulated proteins after Sgk1-specific RNA silencing.

Could interferon still play a role in metastatic renal cell carcinoma? A randomized study of two schedules of sorafenib plus interferon-alpha 2a (RAPSODY).

Background: Sorafenib has proven efficacy in metastatic renal cell carcinoma (mRCC). Interferon (IFN) has antiangiogenic activity that is thought to be both dose- and administration-schedule dependent.

Objective: To compare two different schedules of IFN combined with sorafenib.

Pharmacogenetic study of patients with advanced non-small cell lung cancer (NSCLC) treated with second-line pemetrexed or pemetrexed-carboplatin.

Purpose: To correlate candidate polymorphisms affecting pemetrexed and carboplatin activity with clinical outcome of patients with advanced non-small cell lung cancer (NSCLC) treated in second-line with pemetrexed or pemetrexed plus carboplatin.

Methods: Functional polymorphisms in thymidylate synthase (TS), reduced folate carrier (RFC), gamma-glutamyl hydrolase (GGH), methylenetetrahydrofolate reductase (MTHFR) and xeroderma pigmentosum group D (XPD) genes were evaluated in 208 patients either treated within randomized phase II trials NVALT-7 and GOIRC-02.2006, comparing second-line pemetrexed with pemetrexed plus carboplatin, or with the same regimens outside of these trials.

Temperament and character traits associated with health-related quality of life in cancer patients.

Background: There is an increase in the attention to factors influencing the quality of life of cancer patients. The aim of the present study was to evaluate temperament and character traits related to health-related quality of life (HRQoL) in patients with cancer.

Methods: Two hundred and three inpatients from three Italian oncology departments filled in the Temperament Character Inventory (TCI-140) based on Cloninger's personality model, the SF-36 questionnaire assessing HRQoL, and the Hospital Anxiety and Depression Scale (HADS).

High frequency rTMS over the left parietal lobule increases non-word reading accuracy.

Increasing evidence in the literature supports the usefulness of Transcranial Magnetic Stimulation (TMS) in studying reading processes. Two brain regions are primarily involved in phonological decoding: the left superior temporal gyrus (STG), which is associated with the auditory representation of spoken words, and the left inferior parietal lobe (IPL), which operates in phonological computation. This study aimed to clarify the specific contribution of IPL and STG to reading aloud and to evaluate the possibility of modulating healthy participants' task performance using high frequency repetitive TMS (hf-rTMS).

High sensitive troponin T in individuals with chest pain of presumed ischemic origin.

This study was aimed at assessing the bias of high sensitive cardiac troponin T vs. the standard cardiac troponin T in a selected population with chest pain of presumed cardiac origin. Serum cTnT was determined in 132 patients and in 106 apparently healthy controls by both assays.

Feasibility of evaluating quality cancer care using registry data and electronic health records: a population-based study.

Objective: To evaluate the quality of patients care, a set of indicators of the standards of cancer care were defined.

Participants: We developed a set of indicators to assess the implementation in daily practice of recommendation produced by a regional network (Istituto Toscano Tumori). This set was tested in a retrospective study in the resident population of the Tuscany Region; the regional health system is organized on 12 local health authorities which refer to three macro areas (Area Vasta).

hERG1 Channels and Glut-1 as Independent Prognostic Indicators of Worse Outcome in Stage I and II Colorectal Cancer: A Pilot Study.

Background: There is a need to identify new markers to assess recurrence risk in early-stage colorectal cancer (CRC) patients. We explored the prognostic impact of ether-a-gò-gò-related gene 1 channels and some hypoxia markers, in patients with nonmetastatic (stage I, II, and III) CRC.

Methods: The expression of hERG1, vascular endothelial growth factor A (VEGF-A), glucose transporter 1, carbonic anhydrase IX (CA-IX), epidermal growth factor receptor (EGF-R), and p53 was tested by immunohistochemistry in 135 patients.

Physisorption, Diffusion, and Chemisorption Pathways of H2 Molecule on Graphene and on (2,2) Carbon Nanotube by First Principles Calculations.

We investigate the interaction of the H2 molecule with a graphene layer and with a small-radius carbon nanotube using ab initio density functional methods. H2 can interact with carbon materials like graphene, graphite, and nanotubes either through physisorption or chemisorption. The physisorption mechanism involves the binding of the hydrogen molecule on the material as a result of weak van der Waals forces, while the chemisorption mechanism involves the dissociation of the hydrogen molecule and the ensuing reaction of both hydrogen atoms with the unsatured C-C bonds to form C-H bonds.

High prevalence of polymorphism and low activity of thiopurine methyltransferase in patients with inflammatory bowel disease.

Background: Gene polymorphism of thiopurine methyltransferase (TPMT) correlates with decreased enzyme activity which determines a significant risk of adverse effect reactions (ADR) in patients treated with thiopurines. The aim of this study was to investigate TPMT genotype and phenotype status in patients with inflammatory bowel diseases (IBD).

Methods: Fifty-one consecutive out-patients with IBD were genotyped for the following allelic variants: rs1800462 (referred as TPMT 2 allele), rs1800460 (referred as TPMT 3B allele), and 1142345 (referred as TPMT 3C allele).

Biological characteristics and medical treatment of breast cancer in young women-a featured population: results from the NORA study.

Background: The present paper described the biological characteristics and clinical behavior of young women in the cohort NORA study

Patients And Methods: From 2000-2002, patients (N > 3500) were enrolled at 77 Italian hospitals. Women aged ≤50 years (N = 1013) were stratified into age groups (≤35, 36-40, 41-45, and 46-50 years). The relationship between age and patient characteristics, cancer presentation, and treatment was analyzed.

Triplets versus doublets, with or without cisplatin, in the first-line treatment of stage IIIB-IV non-small cell lung cancer (NSCLC) patients: a multicenter randomised factorial trial (FAST).

Background: The FAST is a 2 × 2 factorial trial addressing two questions: (1) the role of replacing cisplatin (P) with a non-platinum agent, vinorelbine (N), and (2) the role of adding a third agent, ifosfamide (I), in a doublet based on gemcitabine (G).

Methods: A total of 433 stage IIIB-IV non-small cell lung cancer (NSCLC) patients were randomised to one of four arms: gemcitabine-cisplatin (GP), gemcitabine-vinorelbine, gemcitabine-ifosfamide-cisplatin or gemcitabine-ifosfamide-vinorelbine. Two comparisons were performed: N- vs P-containing regimens and I-triplets vs non-I doublets.

Cardiac and skeletal muscle expression of mutant β-myosin heavy chains, degree of functional impairment and phenotypic heterogeneity in hypertrophic cardiomyopathy.

Several mutations in distinct genes, all coding for sarcomeric proteins, have been reported in unrelated kindreds with familial hypertrophic cardiomyopathy (FHC). We have identified nine individuals from three families harboring two distinct mutations in one copy of the β-myosin heavy chain (β-MHC) gene. In this study, the expression of the mutant β-myosin protein isoform, isolated from slow-twitch fibers of skeletal muscle, was demonstrated by Northern and Western blot analysis; this myosin showed a decreased in vitro motility activity and produced a lower actin-activated ATPase activity.

H ferritin gene silencing in a human metastatic melanoma cell line: a proteomic analysis.

Ferritin, the major intracellular iron-storage protein, is made of 24 subunits of two types, H and L. Besides regulating intracellular iron homeostasis, it has been found that ferritin, in particular the H subunit (FHC), is involved in different biological events such as cell differentiation and pathologic states (i.e.

Neuropsychological profile of Italian children and adolescents with 22q11.2 deletion syndrome with and without intellectual disability.

As individuals with chromosome 22q11.2 deletion syndrome (22q11DS) show a wide range of IQs, intellectual heterogeneity could mask the neuropsychological profile of the syndrome. This study was designed to identify specific neuropsychological features of children and adolescents with 22q11DS by taking into account the possible source of variability deriving from intellectual disability (ID).

BRCA1 is required for hMLH1 stabilization following doxorubicin-induced DNA damage.

Human DNA mismatch repair (MMR) is involved in the removal of DNA base mismatches that arise either during DNA replication or are caused by DNA damage. In this study, we show that the activation of the MMR component hMLH1 in response to doxorubicin (DOX) treatment requires the presence of BRCA1 and that this phenomenon is mediated by an ATM/ATR dependent phosphorylation of the hMLH1 Ser-406 residue. BRCA1 is an oncosuppressor protein with a central role in the DNA damage response and it is a critical component of the ATM/ATR mediated checkpoint signaling.