Data Consistency for Data-Driven Smart Energy Assessment.

In the smart grid era, the number of data available for different applications has increased considerably. However, data could not perfectly represent the phenomenon or process under analysis, so their usability requires a preliminary validation carried out by experts of the specific domain. The process of data gathering and transmission over the communication channels has to be verified to ensure that data are provided in a useful format, and that no external effect has impacted on the correct data to be received.

UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease.

Chronic presence of mutant, misfolded proteins in the endoplasmic reticulum (ER) initiates ER stress and induces the Unfolded Protein Response (UPR). In Gaucher disease (GD), resulting from mutations in the GBA1 gene, encoding lysosomal acid β-glucocerebrosidase (GCase), a certain fraction of the mutant variants is retained in the ER and activates the UPR. We have previously shown UPR activation in GD derived fibroblasts, in fibroblasts that derived from carriers of GD mutations and in Drosophila models of carriers of GD mutations.

Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.

Background: Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assembly is essential for accurate diagnosis of minuscule amounts of circulating cell-free fetal DNA; however, current haplotyping techniques are too time-consuming and laborious to be carried out within the limited time constraints of prenatal testing, hampering practical application of NIPD in the clinic. Here, we have addressed this pitfall and devised a universal strategy for rapid NIPD of a prevalent mutation in the Ashkenazi Jewish (AJ) population.

Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density.

Bone-related complications in Gaucher disease are considered to be poorly responsive to specific enzyme replacement therapy. Polymorphisms of candidate genes associated with low bone density were investigated to see whether they are correlated with bone mineral density (BMD) and bone involvement in Gaucher disease. Genotyping for polymorphisms in candidate genes (interleukins 1alpha and 1beta, interleukin-1 receptor antagonist; cytochrome P450; collagen 1A1; low-density Lipoprotein Receptor; bone morphogenic protein 4; vitamin D receptor; and estrogen receptor 2beta) were performed using standard methodologies.

Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease.

Objectives: Fabry disease is a multisystem disorder with phenotypic heterogeneity only partially explained by genotype. Elevated interleukin-6 (IL-6) plasma levels and C-reactive protein (CRP) serum levels are associated with increased risk and worse outcome of ischaemic events, a serious prognostic sign in Fabry disease.

Methods: 56 patients (34 hemizygous males, 22 females; 5 children) were studied.

The 1604A (R496H) mutation in Gaucher disease: genotype/phenotype correlation.

Gaucher disease is the most common sphingolipid storage disease but genotype only broadly predicts phenotype. The 1604G-->A (1604A;R496H) mutation has been described as having a low incidence among Ashkenazi Jews. The purpose of this study was to ascertain phenotypic expression and prevalence of this mutation among patients with Gaucher disease and among healthy Ashkenazi Jews.

[Clinical cases of keratinized fibromucous free autografts].

In this work the problems due to shortage of proper or adherent gum have been analyzed, further has been referred the clinical cases corresponding to the periodontal indications, which foresee the reconstruction of an insufficient superficial periodontium. Moreover have been described the surgical techniques of the free graft.

[The role of emergency colonoscopy in colorectal hemorrhage].

The diagnosis of lower intestinal hemorrhage usually follows the successive sequence: a) digital rectal examination, b) rectosigmoidoscopy, c) barium enema, d) colonoscopy. This latter method has proven to be the most sensitive. This study is a retrospective examination of the results obtained by emergency colonoscopy on the diagnosis and treatment of lower intestinal hemorrhage.

[Squamous cell epithelioma: retrospective analysis of a multidisciplinary approach with surgical treatment and periodontal treatment].

Retrospective analysis of a multidisciplinary approach between surgery treatment a periodontal treatment. In our experience the surgery treatment of the squamous cell carcinoma has been completed by periodontal treatment to eliminate the secondary consequences such as bleeding and salivating++ from the labial chyme.

[Ultrastructural aspects of root planing: scanning electron microscopy (S.E.M.)].

The basis of Periodontal treatment is represented by scaling and root planing. The aim of this study was to compare root morphology after the use of three currets: a new Hu Friedy Gracey 7/8, a semi-new Hu Friedy Gracey 7/8, a worn Hu Friedy Gracey 7/8. The research indicates that manual treatment with the new curette is effective in removing tartar but can cause excoriations on the enamel of the tooth.

[Oral respiration. Diagnosis and physiopathology].

The oral breathing can change the functional connections during the development of the facial bones of the children. All this causes an abnormal growth of the facial bones and of the dental structures. This work developed a new discipline to remove this problem.

[The crevicular fluid in diabetics before and after initial periodontal treatment].

In this study gingival crevicular fluid was used as a parameter to estimate the efficacy of initial treatment in diabetic patients. The patients with diabetes had significantly more gingival inflammation before initial treatment than after. A Periotron with Periopaper was used to measure gingival crevicular fluid.

[Paget's degeneration of the juxta-alveolar portion of the mandible in subjects with generalized osteoporosis. Clinical study].

After the description of the etiopathogenetic aspects and of the pathologic anatomy lesion more typical of the Paget's disease, the A.A. describe a interesting case of the mandible's degeneration in a patient with chronic osteoporosis.

[Gingival changes in pregnancy].

Pregnancy represent a particular sistemic condition able to induce, because the tissutal metabolism is upset, an increase replay of the gingival tissues, caused by local factors as plaque and tartar. In this study are described effects determined from the increment ormone on the periodontal tissues, the alterations of the salivar components in pregnancy and the therapy to follow to reach as soon as possible the recovery.

[Case of cleft palate].

The present paper briefly outlines the pathogenesis of cleft palate and proposes a classification system for cleft palate since both are considered essential for the understanding and assessment of its sequelae. The Authors describe one case of cleft palate. Cleft palate patients present functional and aesthetic alterations in the maxillomandibular area that often require prosthetic correction.

[Initial preparation for periodontal therapy].

The purpose of the present investigation was to test concept that initial treatment is effectual to maintain gingival health. The principal local aging factor is represented by plaque accumulation and gingival inflammation. The results of this study have proved that initial treatment is effectual only on pockets measuring less than 4 mm to periodontal probing.

[Granulosa cell myoblastoma of the chin: clinical study].

An interesting of granular-cell Myoblastoma occurred on the chirny area of a patient bearer of an inferior dental prosthesis gives the starting point for a revision of all Histopathogenetic theory about the true origin of these rare and discussed neoformations mostly sealed on the oral cavity.