Increased Adiposity, Dysregulated Glucose Metabolism and Systemic Inflammation in Galectin-3 KO Mice

PMCID: PMC3579848This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy

Italian guidelines for primary headaches: 2012 revised version

The first edition of the Italian diagnostic and therapeutic guidelines for primary headaches in adults was published in J Headache Pain 2(Suppl. 1):105–190 (2001). Ten years later, the guideline committee of the Italian Society for the Study of Headaches (SISC) decided it was time to update therapeutic guidelines. A literature search was carried out on Medline database, and all articles on primary headache treatments in English, German, French and Italian published from February 2001 to December 2011 were taken into account. Only randomized controlled trials (RCT) and meta-analyses were analysed for each drug. If RCT were lacking, open studies and case series were also examined. According to the previous edition, four levels of recommendation were defined on the basis of levels of evidence, scientific strength of evidence and clinical effectiveness. Recommendations for symptomatic and prophylactic treatment of migraine and cluster headache were therefore revised with respect to previous 2001 guidelines and a section was dedicated to non-pharmacological treatment. This article reports a summary of the revised version published in extenso in an Italian version

Conservative Approach for Treatment of Maxillary Lateral Incisor Agenesis With the Deciduous Tooth Retained: 18-Month Follow-Up

SUMMARY This case describes a female patient with agenesis of the maxillary right lateral incisor, with her permanent canine in its position and the deciduous canine retained. Additionally, she presented with a maxillary left peg lateral incisor. To solve her functional and esthetic complaints, a multidisciplinary approach involving perio-restorative procedures was proposed. Periodontal surgeries were performed to align the gingival contour, and the restorative approach utilized ceramic veneers. At the 18-month clinical and radiographic follow-up, the treatment outcome was stable, with maintenance of the clinical results achieved and without any sign of deciduous tooth resorption.</jats:p

Treatment of Enamel Surfaces After Bracket Debonding: Case Reports and Long-term Follow-ups

SUMMARY After bracket debonding, residual bonded material may be observed on the enamel surface. When not properly removed, this residual material can interfere with the surface smoothness of the enamel, potentially resulting in staining at the resin/enamel interface and contributing to biofilm accumulation. Clinical case reports demonstrate clinical procedures to remove residual bonded material after bracket debonding. A water-cooled fine tapered 3195 FF diamond bur was used to remove the residual bonded material. Subsequently, the enamel surface was treated with Opalustre microabrasive compound. After one week, overnight dental bleaching was initiated using 10% carbamide peroxide in custom-formed trays for four weeks. The enamel microabrasion technique was found to be effective for polishing the enamel surface and for reestablishing the dental esthetics associated with dental bleaching. Longitudinal clinical controls of other clinical cases are presented.</jats:p

Clinical/Photographic/Scanning Electron Microscopy Analysis of Pit and Fissure Sealants After 22 Years: A Case Series

SUMMARY Pit and fissure sealant is a clinical technique adopted to prevent caries lesion development. Ionomeric and/or resin-based materials are commonly used for this purpose. This article presents a case series of sealed teeth with 22-year follow-up evaluated by clinical, photographic, and microscopic analysis. In 1992, sixteen patients (9-14 years of age) had at least three teeth sealed with one of the following materials: resin-modified glass ionomer cement (RMGIC, Vitrebond or Fuji II LC) or polyacid-modified resin composite (PMRC, VariGlass VLC), totaling 86 sealed permanent teeth. After 22 years, 10 patients were recalled, representing 41 teeth. The retention of sealants was assessed by three methods: clinical analysis by visual inspection; photography; and scanning electron microscope (SEM) images and classified as retained (pits and fissures filled by sealant material); partially retained (pits and fissures partially filled by sealant material); or totally lost (no material was found in pits and fissures). The SEM images provided a higher number of retained sealants when compared with the clinical and photographic evaluations. Also, no totally lost scores were found with SEM analysis, regardless of the sealing material. No caries lesions were found. A fully or partially retained sealant in pits and fissures was capable of preventing caries lesions after 22 years within the patient pool analyzed.</jats:p