Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Neurodevelopmental delay and intellectual disability (ID) can arise from numerous genetic defects. To date, variants in the EXOSC gene family have been associated with such disorders. Using next-generation sequencing (NGS), known and novel variants in this gene family causing autosomal recessive ID (ARID) have been identified in five Iranian families. By collecting clinical information on these families and comparing their phenotypes with previously reported patients, we further describe the clinical variability of ARID resulting from alterations in the EXOSC gene family, and emphasize the role of RNA processing dysregulation in ARID.     

The effect of statin therapy in combination with ezetimibe on circulating C-reactive protein levels: a systematic review and meta-analysis of randomized controlled trials

Background

Previous studies have reported that statin or ezetimibe therapy has an anti-inflammatory effect. However, the results of individual studies on the effect of statin therapy in combination with ezetimibe on C-reactive protein (CRP) and high-sensitivity CRP (hs-CRP) levels have not been clear. Therefore, the present systematic review and meta-analysis were conducted on randomized clinical trials (RCTs) to evaluate the effect of statin therapy in combination with ezetimibe on CRP and hs-CRP levels.

Methods

A literature search was carried out on the MEDLINE, SciVerse Scopus, and Clarivate Analytics Web of Science databases up to February 2022 to find eligible studies. The pooled effect sizes were considered for weighted mean difference (WMD) and 95% confidence intervals (CI) for CRP and hs-CRP, and it was also determined as standardized weighted mean difference (SMD) for overall CRP. For all variables, a random-effects model was used.

Results

Of the 57 studies included in the systematic review, 53 were used for meta-analysis. Statin therapy in combination with ezetimibe significantly reduced the serum levels of hs-CRP (WMD ??0.2 mg/l; 95% CI ??0.4, ??0.1, P???0.001) and overall CRP (SMD ??0.16 mg/l; 95% CI ??0.2, ??0.07, P???0.001). Nevertheless, CRP levels were not significantly changed by combination therapy. A significant association was observed between the serum low-density lipoprotein cholesterol (LDL-C) changes and hs-CRP levels, which can justify the source of heterogeneity.

Conclusions

The current study showed that statin therapy in combination with ezetimibe could be effective in reducing the levels of hs-CRP and overall CRP.

Graphical abstract

     

The effects of diode laser (660 nm) on the rate of tooth movements: an animal study

Lasers in Medical Science - Low-level laser has been indicated to have the capability to facilitate the differentiation of the osteoclastic and osteoblastic cells which are responsible for the bone...     

Comparison of the sealing ability of mineral trioxide aggregate and Portland cement used as root-end filling materials

Inadequate apical seal is the major cause of surgical endodontic failure. The root-end filling material used should prevent egress of potential contaminants into periapical tissue. The purpose of this study was to compare the sealing ability of four root-end filling materials: white mineral trioxide aggregate (MTA), gray MTA, white Portland cement (PC) and gray PC by dye leakage test. Ninety-six human single-rooted teeth were instrumented, and obturated with gutta-percha. After resecting the apex, an apical cavity was prepared. The teeth were randomly divided into four experimental groups (A: white MTA, B: gray MTA, C: white PC and D: gray PC; n = 20) and two control groups (positive and negative control groups; n = 8). Root-end cavities in the experimental groups were filled with the experimental materials. The teeth were exposed to Indian ink for 72 hours. The extent of dye penetration was measured with a stereomicroscope at 16× magnification. The negative controls showed no dye penetration and dye penetration was seen in the entire root-end cavity of positive controls. However, there was no statistically significant difference among the four experimental groups (P > 0.05). All retrograde filling materials tested in this study showed the same microleakage in vitro. Given the low cost and apparently similar sealing ability of PC, PC could be considered as a substitute for MTA as a root-end filling material.     

Priorities for future public health research in orofacial clefts.

The National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention conducted a workshop in January 2006, entitled "Prioritizing a Research Agenda for Orofacial Clefts." The goals of the meeting were to review existing research on orofacial clefts (OFCs), identify gaps in knowledge that need additional public health research, and develop a prioritized research agenda that can help guide future public health research. Experts in the field of epidemiology, public health, genetics, psychology, speech pathology, dentistry, and health economics participated to create the research agenda. Research gaps identified by the participants for additional public health research included: the roles of maternal nutrition, obesity, and diabetes in the etiology of OFCs; psychosocial outcomes for children with OFCs; the quality of life for families and children with OFCs; and the health care costs of OFCs. To create the research agenda, the participants prioritized the research gaps by public health importance, feasibility, and outcomes of interest. This report summarizes the workshop.     

Investigating possible correlation between condylar asymmetry and clinical dysfunction indices in patients with temporomandibular dysfunction using Cone-beam computed tomographic

Purpose

Temporomandibular disorder (TMD) is a common problem in modern societies. Causes of TMD, as a consequence of condylar asymmetry index (CAI), are still a subject of controversy. The aim of the present study was to determine the possible correlations between the degree of condylar asymmetry and clinical dysfunction indices.

The promising role of monoclonal antibodies for immunotherapy of the HIV-associated cancer,non-Hodgkin lymphoma

Association between HIV/AIDS and some of the cancers such as lymphomais is well known. Relative risk for developing non-Hodgkin lymphoma (NHL) increases 60–200 folds in HIV-infected individuals. Diffuse large B cell lymphoma (DLBCL), primary effusion lymphoma (PEL), Burkitt's lymphoma (BL) and Plasmablastic Lymphoma (PBL) are among the most frequent subtypes. During the last century, scientists found that the immune system could potentially detect and destroy cancer cells. Therefore, they started a new field of study, which is named immunotherapy. There are different immunotherapeutic methods, among which therapeutic antibodies, such as Brentuximabvedotin (Adcetris), Ibritumomabtiuxetan (Zevalin) and rituximab (Rituxan), used for treatment of NHLs showed promising results. In this article, we will review the immunotherapeutic option, monoclonal antibodies, for treatment of HIV-associated NHLs as well as their recent clinical status. We will also discuss the selective monoclonal antibody for each subtype of NHLs.     

Lack of Association Between Transforming Growth Factor Beta 1 -509C/T and +915G/C Polymorphisms and Chronic Hepatitis B in Iranian Patients

Background:

Chronic hepatitis B is one of the world''s major health concern. The etiological agent of this infection is hepatitis B virus (HBV), which can evade the immune system response. Transforming growth factor beta 1 (TGF-β1) can act against HBV by suppressing the viral replication. The TGF-β1 also plays an important role in preventing liver damage in chronically HBV infected patients.

Objectives:

In this study, the association of TGF-β1 +915G/C and -509C/T gene polymorphisms with chronic hepatitis B was evaluated in Iranian patients.

Materials and Methods:

A population-based case–control study was conducted in Taleghani Hospital, Tehran. A number of 220 patients with chronic hepatitis B and the same number of healthy control subjects were designated the case and the control groups. The PCR-Restriction Fragment Length Polymorphism Method (PCR-RFLP) method was used for genotyping both polymorphisms. Ten percent of the control samples were sequenced to confirm the results.

Results:

No statically significant differences in genotype distribution and allele frequency were observed for both polymorphisms between healthy controls and patients with chronic hepatitis B.

Conclusions:

There was no association between TGF-β1 -509C/T and +915G/C polymorphisms with chronic hepatitis B and it seems that these changes don not play a significant role in increasing the risk of chronic infection in Iranian patients.