Genetic variants involved in bipolar disorder, a rough road ahead

Background: Bipolar Disorder (BD), along with depression and schizophrenia, is one of the most serious mental illnesses, and one of the top 20 causes of severe impairment in everyday life. Recent molecular studies, using both traditional approaches and new procedures such as Whole-Genome Sequencing (WGS), have suggested that genetic factors could significantly contribute to the development of BD, with heritability estimates of up to 85%. However, it is assumed that BD is a multigenic and multifactorial illness with environmental factors that strongly contribute to disease development/progression, which means that progress in genetic knowledge of BD might be difficult to interpret in clinical practice. Objective: The aim of this study is to provide a synthetic description of the main SNPs variants identified/confirmed by recent extensive WGS analysis as well as by reconstruction in an in vitro mechanism or by amygdala activation protocol in vivo. Method: Bibliographic data, genomic and protein Data Banks were consulted so as to carry out a cross genomic study for mutations, SNPs and chromosomal alterations described in these studies in BD patients. Results: Fifty-five different mutations have been described in 30 research papers by different genetic analyses including recent WGS analysis. Many of these studies have led to the discovery of the most probable susceptibility genes for BD, including ANK3, CACNA1C, NCAN, ODZ4, SYNE1, and TRANK1. Exploration has started the role of several of these mutations in BD pathophysiology using in vitro and animal models. Conclusion: Although new genomic research technology in BD opens up new possibilities, the current results for common variants are still controversial because of four broad conditions: analytical validity, clinical validity, clinical utility and a reasonable cost for genetic analysis are not yet accessible

Oral and maxillofacial metastasis of breast cancer: a case report and literature review

Objective: Oral metastases are relatively rare. In women, the most common oral metastases originate from breast cancer, most diagnosed malignancy and the second leading cause of death. The aim of this study was to review the literature regarding oral metastases from breast cancer with the help of a case report, with a focus on clinical and radiographical features and differential diagnosis. Materials and Methods: The English-language literature between 1980 and 2020 was searched for cases of metastatic lesions to the oral cavity, including bone and soft tissue. Clinical and histopathological data were collected from selected articles. Results: 81 studies were included in the analysis, with a total of 191 affected patients. 97% were women (mean age 54.6) and the remaining 3% were men (mean age 65.2). Adenocarcinoma was the most frequent histotype (33%) followed by ductal carcinoma (17%). In 102 patients (51.5 %), oral metastases were intra-osseous and the remaining 96 patients (48.5%) showed metastases to soft tissues. The primary breast tumor was already known before the onset of the oral metastatic lesion (76.4%). The average time between primary tumor diagnosis and appearance of the oral metastases was 3.8 years. 73% of the patients died, the mean survival time from oral metastasis diagnosis was 21.6 months. Conclusions: Oral metastases can present both clinically and radiographically very similar to other benign lesions frequently encountered in clinical dental practice. In most cases, the patient has developed the primary neoplasm before oral metastasis, therefore, a complete anamnesis is decisive. Once the diagnostic hypothesis and the differential diagnosis have been established, the histopathological examination is fundamental; therefore, it must always be performed

Oral HSV Infections: Molecular biology and photodynamic therapy as new diagnostic and therapeutic tools

Globally, it has been estimated that 3.7 billion people are Herpes simplex 1 (HSV) seropositive. In addition, numerous studies highlight the presence of HSV-1 and 2 (HSV-2) in the oral cavity of asymptomatic patients. The rate of asymptomatic shedding of both HSV-1 and HSV-2, the re-exacerbation following dental treatments and finally the professional risk, and new techniques to improve the diagnosis and treatment of this widespread pathology, will discussed. In particular the effectiveness of photodynamic therapy (PDT) in combination with molecular biology (Polymerase Chain reaction, PCR) tested on a cohort of patients will presented. PDT was performed by diode laser light at 660 nm and 100 mWatt of power (Helbo, Bredent Medical, Senden, Germany), combined with photosensitizer phenothiazine chloride at 1%. The results show that the main HSV spread mode is asymptomatic. Particularly, HSV-1 is statistically more detectable in HIV positive and oncological patients than in immunocompetent ones (p<0,01) but not in transplant patients (p>0,01). HSV-2 is more detectable in HIV positive patients than healthy ones (p<0,01) but not in cancer and transplant patients (p>0,01). Regarding the exacerbation of HVS-1 after dental treatments, studies in the literature are discordant. Finally, for the occupational risk, dentistry team appears to be more exposed than the general population. Extremely interesting data emerged from PDT applied in patients with herpetic lesion. The PCR in fact, besides being decisive in some doubtful clinical cases, has shown a statistically significant reduction of the viral load 100 and 150 times the first and the second cycle of PDT. Clinically PDT has proven effective in immediately reducing symptoms and healing, also increasing the recurrence interval. Therefore, it could be a powerful aid in patients with herpetic manifestations to be applied before carrying out any treatments in order to decrease the viral spread

Extended erosive oral lichen planus treated with a very low-level laser therapy: A case report

Background: Oral lichen planus is a chronic idiopathic inflammatory disease that affects the skin and mucous membrane and involves about 1-2% of the population. The management of this pathology aims to control symptoms. Clinically, it can appear as a plaque, in reticular form, or an erythematous/atrophic form. The treatment options include different classes of drugs and non-drug therapies such as a laser. In addition, most drug treatments include numerous side effects. Objective: The aim of this work is to evaluate the clinical effectiveness of a particular type of very Low-Level-Laser Therapy for the management of an erosive oral lichen planus case. Methods: An extensive form of erosive Oral Lichen Planus was treated using a Low-Level Laser Therapy with a 660 nm diode laser. The treatment was performed once per week for two sessions of five minutes each. Different outcome variables were examined: the size of lesions, evolution of pain symptoms, and presence of side effects and stability of the therapeutic results in the follow-up period. Results: After a week, the lesion appeared more homogenous, and the erythematous areas underwent a reduction with a simultaneous decrease in symptoms. After two weeks, the lesion seemed completely healed with the disappearance of pain. The follow-up continued for the other four months, and no relapse was reported. No adverse effects were observed during the study. Conclusion: This study suggests that Low-Level Laser Therapy with very low power parameters could be a safe and successful treatment for extended oral erosive lichen planus lesions

Characterization of a Macro- and Micro-Textured Titanium Grade 5 Alloy Surface Obtained by Etching Only without Sandblasting

Our purpose was to physically characterize the surface, and the subsurface, of a macro-and micro-textured titanium grade 5 dental implant surface obtained by etching only, without sandblasting. The topography, surface roughness, as well as the surface structure and subsurface distribution of elements, were determined by scanning electronic microscopy (SEM), non-contact profilometry, X-ray diffraction (XRD), and a concentration profile performed by Auger electron spectroscopy (AES). The hydrogen concentration in the implants was measured; the ability to generate nanostructures when stored in deionized water was also investigated. Under SEM, the surface resembled a sandblasted and etched titanium surface with its typical macro-and micro-texture; roughness was moderate with average roughness (Sa) 1.29 µm. No titanium hydride was found at the implant surface and no enrichment of any alloying element was identified at the surface and subsurface. Hydrogen concentration was 79 ppm, within the normative tolerance (<130 ppm). After storage in water for 6 months, densely packed finger-like nanostructures were observed. The clinical advantage of this textured titanium alloy surface is that it displays the typical macro-and micro-features of a moderately rough sandblasted and etched (SLA) titanium surface without leaving behind any foreign sandblasting material

Does Living in Previously Exposed Malaria or Warm Areas is Associated with a Lower Risk of Severe COVID-19 Infection in Italy?

Incidence of Covid-19 positivity (21/2/2020-28/3/2020) in provinces of 4 Italian regions whose territory was described as previously exposed to Malaria was compared with those of other provinces of the same regions. The climate of such provinces was compared with the climate of the other provinces in some regions. Previously malarial areas show a lower risk than other provinces of the same regions: Mantua (Lombardy) RR=0.94 (CI95%0.89-0.99); Venice-Rovigo (Veneto) RR=0.61 (CI95%0.58-0.65); Ferrara-Ravenna (Emilia-Romagna) RR=0.37 (CI95%0.35-0.41); Cagliari Oristano-South Sardinia (Sardinia) RR=0.25 (0.17-0.31). The maximum temperature in March 2020 in those provinces was higher in mean 1.5° for other provinces. The lower frequency of COVID-19 in the provinces previously exposed to Malaria of four Italian regions does not reveal a causal link. The phenomenon has emerged independently in all the regions investigated. People born between the 1920s and 1950s were those most exposed to malaria years ago and today are the most exposed to the severest forms of COVID-19. A warmer climate seems to be associated with a lower risk of COVID, in line with the evidence highlighted in equatorial states where a lower lethality of the virus has emerged, however this regardless of the presence of Malaria. This may suggest that climate and not Malaria is the real risk factor, though further studies need to determine the role of the association climate / COVID

Co-infection of Streptococcus pneumoniae in Respiratory Infections Caused by SARS-CoV-2

Abstract: Viral respiratory infections are often associated with bacterial co-infections that often lead to increased severity and mortality of the disease. During the recent pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), hospitalized patients reported developing secondary bacterial infections ranging from 0 to 40% of the cases. In the previous influenza pandemics, Streptococcus pneumoniae was the most isolated bacterial pathogen causing increased mortality in patients affected by viral pneumonia. Due to the difficulty to detect pneumococcal infection in SARSCoV-2 patients by a rapid clinical test, the real prevalence of S. pneumoniae might be underestimated, and only a few cases have been documented so far. It has been estimated that 90% of patients admitted to the Intensive Care Unit are empirically treated with antimicrobial. The application of more rapid and sensitive diagnostic methods could help with targeted antibiotic therapy. Additionally, pneumococcal vaccination of high-risk individuals could reduce bacterial pneumonia, hospital admissions, and comorbidities associated with serious illness

Can an Investigation of a Single Gene be Effective in Differentiating Certain Features of the Bipolar Disorder Profile?

Bipolar disorder (BD) is amongst the most common heritable mental disorders, but the clarification of its genetic roots has proven to be very challenging. Many single nucleotide polymorphisms (SNPs) have been identified to be associated with BD. SNPs in the CACNA1C gene have emerged as the most significantly associated with the disease. The aim of the present study is to provide a concise description of SNP 1006737 variants identified by Real Time PCR and confirm sequencing analysis with the Sanger method in order to estimate the association with BD. The molecular method was tested on 47 Sardinian subjects of whom 23 were found to not be mutated, 1 was found to be a carrier of the homozygous A allele and 23 were found to be carriers of the heterozygous G allele. Moreover, the positive results of the preliminary application suggest that the development of the screener could be extended to the other 5 genetic variables identified as associated with BD

Hydrocarbon-Contaminated Sites: Is There Something More Than Exophiala xenobiotica? New Insights into Black Fungal Diversity Using the Long Cold Incubation Method

Human-made hydrocarbon-rich environments are important reservoirs of microorganisms with specific degrading abilities and pathogenic potential. In particular, black fungi are of great interest, but their presence in the environment is frequently underestimated because they are difficult to isolate. In the frame of a biodiversity study from fuel-contaminated sites involving 30 diesel car tanks and 112 fuel pump dispensers (52 diesel and 60 gasoline, respectively), a total of 181 black fungal strains were isolated. The long cold incubation (LCI) of water-suspended samples, followed by plating on Dichloran Rose Bengal Chloramphenicol Agar (DRBC), gave isolation yields up to six times (6.6) higher than those of direct plating on DRBC, and those of enrichment with a phenolic mix. The sequencing of ITS and LSU-rDNA confirmed the dominance of potentially pathogenic fungi from the family Herpotrichiellaceae and Exophiala xenobiotica. Moreover, other opportunistic species were found, including E. opportunistica, E. oligosperma, E. phaeomuriformis, and Rhinocladiella similis. The recurrent presence of E. crusticola, Knufia epidermidis, Aureobasidium melanogenum, Cladosporium spp., and Scolecobasidium spp. was also recorded. Interestingly, 12% of total isolates, corresponding to 50% of taxa found (16/32), represent new species. All the novel taxa in this study were isolated by LCI. These findings suggest that black fungal diversity in hydrocarbon-rich niches remains largely unexplored and that LCI can be an efficient tool for further investigations.info:eu-repo/semantics/publishedVersio