A therapeutic genome editing primer for cardiologists

Genome editing, or genome engineering is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome of a living organism using engineered nucleases, or molecular scissors. Genome editing is being rapidly adopted into all fields of biomedical research, including the cardiovascular field, where it has facilitated a greater understanding of lipid metabolism, electrophysiology, cardiomyopathies, and other cardiovascular disorders, has helped to create a wider variety of cellular and animal models, and has opened the door to a new class of therapies. In this review, we discuss the applications of in vivo genome-editing therapies for cardiovascular disorder

Minimally invasive (flapless) crown lengthening by erbium:YAG laser in aesthetic zone.

Crown lengthening is a surgical procedure aimed at exposure of a larger tooth surface by gingivectomy alone or with cortical bone remodelling for aesthetic purposes in the anterior zone of the maxilla or for reconstruction of teeth affected by subgingival caries. We report two cases of crown lengthening in the anterior maxilla for aesthetic purposes by gingival and bone re-contouring performed by erbium-doped yttrium aluminium garnet (erbium:YAG) laser. As highlighted in this report, the erbium:YAG laser-assisted crown lengthening is less invasive and also leads to faster clinical outcomes in contrast to the conventional surgical technique by scalpel incision, flap elevation and osteoplastic

Minimally invasive (flapless) crown lengthening by erbium:YAG laser in aesthetic zone.

Crown lengthening is a surgical procedure aimed at exposure of a larger tooth surface by gingivectomy alone or with cortical bone remodelling for aesthetic purposes in the anterior zone of the maxilla or for reconstruction of teeth affected by subgingival caries. We report two cases of crown lengthening in the anterior maxilla for aesthetic purposes by gingival and bone re-contouring performed by erbium-doped yttrium aluminium garnet (erbium:YAG) laser. As highlighted in this report, the erbium:YAG laser-assisted crown lengthening is less invasive and also leads to faster clinical outcomes in contrast to the conventional surgical technique by scalpel incision, flap elevation and osteoplastic

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

BACKGROUND: We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC). This study was focused on the identification of the responsible gene/s. METHODS AND RESULTS: Using the whole-exome sequencing approach, we identified the proband homozygous missense mutations in two genes, the myosin heavy chain 7B (MYH7B) and the integrin alpha 7 (ITGA7). Both genes are expressed in heart and muscle tissues, and both mutations were predicted to be deleterious and were not found in the healthy population. The R890C mutation in the MYH7B gene segregated with the LVNC phenotype in the examined family. It was also found in one unrelated patient affected by LVNC, confirming a causative role in cardiomyopathy. The E882K mutation in the ITGA7 gene, a key component of the basal lamina of muscle fibers, was found only in the proband, suggesting a role in CFTD. CONCLUSIONS: This study identifies two novel disease genes. Mutation in MYH7B causes a classical LVNC phenotype, whereas mutation in ITGA7 causes CFTD. Both phenotypes represent alterations of skeletal and cardiac muscle maturation and are usually not severe. The severe phenotype of the proband is most likely due to a synergic effect of these two mutations. This study provides new insights into the genetics underlying Mendelian traits and demonstrates a role for digenic inheritance in complex phenotypes

Peripheral Giant Cell Granuloma of the Jaws as First Sign of Primary Hyperparathyroidism: A Case Series

Peripheral giant cell granulomas (PGCG) associated with hyperparathyroidism (HPT) are rare clinical entities. The aim of this study is to report on 21 PGCGs of the oral cavity as the first clinical sign of unknown primary HPT (PHPT) referred to the Complex Operating Unit of Odontostomatology of Aldo Moro University of Bari from 2009 to 2019. Surgical treatment consisted in conservative enucleation of the lesion, if possible, with contextual bone rim osteoplasty with piezosurgical tools and following histological examination. After histological diagnosis of PGCG, PHPT screening was performed dosing parathyroid hormone and serum calcium. In all the patients haematological investigation demonstrated elevated values of parathyroid hormone and serum calcium ruling out an unknown PHPT. Specifically, after endocrinological evaluation, patients showed PHPT related to: parathyroid adenoma (13), parathyroid hyperplasia (two, one of which occurred in a intra-thyroidal parathyroid), and parathyroid carcinoma (1) and were scheduled for surgical treatment. Considering that PGCGs could represent the first clinical sign of an undiagnosed PHPT and the screening of PHPT is a non-invasive and cheap exam, in case of histological diagnosis of a giant cell lesion, both central and peripheral, especially in patients with synchronous or history of methacronous giant cell lesions, parathyroidal screening should be mandatory