A Rare Case of Spinocerebellar Ataxia Autosomal Recessive 21 Presented with Liver Disease.

Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood. The common presentations of this disease are recurrent episodes of liver failure, chronic liver fibrosis, cerebellar atrophy in early childhood, late onset of learning disabilities, and peripheral neuropathy. Diagnosis of spinocerebellar ataxia autosomal recessive 21 is challenging, especially due to the variety of clinical presentations. In the current study, we present an 11-year-old girl diagnosed with spinocerebellar ataxia autosomal recessive 21. She had multiple episodes of acute hepatic failure with later presentations of neurological dysfunctions. The diagnosis of spinocerebellar ataxia autosomal recessive 21 was made by genetic testing.

A systematic review and meta-analysis of failure to take history as a barrier of reporting child abuse by dentists in private and state clinics.

BACKGROUND: Since the symptoms of child abuse and neglect often manifest in the orofacial region, the dental team has a key role in identifying children subjected to abuse. This study was aimed to explore the prevalence of failure to take history as a barrier to reporting child abuse by dentist around the world. MATERIALS AND METHODS: In this systematic review and meta-analysis, PubMed, Embase, Scopus, Google Scholar, ProQuest, Cochrane, and ISI databases were searched for the cross-sectional articles in English languages on barriers to reporting child abuse and lack of knowledge about referral procedures by dentists since 1985 using Medical Subject Headings (MeSH). The full-texts of all included articles were obtained and assessed for quality according to Newcastle-Ottawa Scale adapted for cross-sectional studies. The qualified articles were then studied thoroughly and results were extracted. Data were analyzed by Comprehensive Meta-Analysis software using meta-analysis and random effects model. Heterogeneity was determined by Q-test and I-square index. RESULTS: A total of 17 articles were included in the meta-analysis. The prevalence of lack of knowledge about referral procedures as a barrier was determined according to the meta-analysis of the number of relevant articles and was (55%, confidence interval: 0.48, 0.62). CONCLUSION: The analysis of various studies revealed lack of information about referral procedures as an important barrier to report child abuse by dentists.

Sensitivity of yeast to lithium chloride connects the activity of YTA6 and YPR096C to translation of structured mRNAs.

Lithium Chloride (LiCl) toxicity, mode of action and cellular responses have been the subject of active investigations over the past decades. In yeast, LiCl treatment is reported to reduce the activity and alters the expression of PGM2, a gene that encodes a phosphoglucomutase involved in sugar metabolism. Reduced activity of phosphoglucomutase in the presence of galactose causes an accumulation of intermediate metabolites of galactose metabolism leading to a number of phenotypes including growth defect. In the current study, we identify two understudied yeast genes, YTA6 and YPR096C that when deleted, cell sensitivity to LiCl is increased when galactose is used as a carbon source. The 5'-UTR of PGM2 mRNA is structured. Using this region, we show that YTA6 and YPR096C influence the translation of PGM2 mRNA.

A Comparison of the Aesthetics Outcomes and Respiratory Side Effects of the Use of Spreader Flap and Spreader Graft Techniques in Open Rhinoplasty.

BACKGROUND: Considering the fact that both spreader flap and spreader graft techniques cause respiratory complications and yield different aesthetics results in patients undergoing open rhinoplasty, this study was aimed at comparing these 2 techniques in terms of aesthetics and respiratory side effects. METHODS: The study was conducted on patients undergoing open rhinoplasty in Ardabil, Iran, during 2016 to 2017. During the Study, a questionnaire containing 7 items related to respiratory complications and 7 items related to aesthetics side effects was completed for each of the patients. After that, the patients were photographed from 6 standard views by the researchers and then the aesthetics side effects were assessed. Finally, the obtained data were all fed into SPSS Software Version 16 and the needed statistical analyses were conducted. RESULTS: One hundred thirty patients were investigated in this study the majority of whom were female. Rhinoplasty in 69 of them was done with spreader graft technique and in 61 of them with spreader flap technique. The analysis of the side effects in these 2 groups of patients indicated that the use of spreader graft technique increases the incidence of nasal hump while the use of spreader flap technique results in an increase in the incidence of obstructive sleep apnea. As regards the other respiratory and aesthetics side effects, the 2 techniques did not yield significantly different results. CONCLUSION: The findings of the present research indicated that there is no significant difference between the use of spreader graft and spreader flap techniques. Therefore, considering the clinical conditions of patients, either of the 2 techniques can be used effectively in rhinoplasties.

Heavy metal sensitivities of gene deletion strains for ITT1 and RPS1A connect their activities to the expression of URE2, a key gene involved in metal detoxification in yeast.

Heavy metal and metalloid contaminations are among the most concerning types of pollutant in the environment. Consequently, it is important to investigate the molecular mechanisms of cellular responses and detoxification pathways for these compounds in living organisms. To date, a number of genes have been linked to the detoxification process. The expression of these genes can be controlled at both transcriptional and translational levels. In baker's yeast, Saccharomyces cerevisiae, resistance to a wide range of toxic metals is regulated by glutathione S-transferases. Yeast URE2 encodes for a protein that has glutathione peroxidase activity and is homologous to mammalian glutathione S-transferases. The URE2 expression is critical to cell survival under heavy metal stress. Here, we report on the finding of two genes, ITT1, an inhibitor of translation termination, and RPS1A, a small ribosomal protein, that when deleted yeast cells exhibit similar metal sensitivity phenotypes to gene deletion strain for URE2. Neither of these genes were previously linked to metal toxicity. Our gene expression analysis illustrates that these two genes affect URE2 mRNA expression at the level of translation.

Salt intake and the association with blood pressure in young Iranian children: first report from the middle East and north Africa.

BACKGROUND: This study aimed to assess the salt intake of Iranian children, and to assess the correlation of urinary electrolytes excretion with blood pressure. METHODS: This cross-sectional study was conducted in 2011-2012 among 3-10-year-old children, selected by multi-stage cluster sampling from urban and rural areas of Isfahan, Iran. The sodium (Na), potassium (K), and creatinine (Cr) were measured in a random sample of the children's first morning fasting urine. Three-day averages of dietary intakes were analyzed by the Nutritionist-4 software. RESULTS: The mean (SD) of urinary Na was 177.17 (28.68) mEq/day without significant difference according to gender and living area. The mean (SD) dietary intakes of Na and K were 2017.76 (117.94) and 1119.06 (76.03) mg/day, respectively. Children of urban and rural areas consumed similar sources of salty foods (bread, cheese, and snacks) and had low intake of vegetables. No significant association was documented between urinary electrolytes excretions and blood pressure. CONCLUSIONS: This study, which to the best of our knowledge is the first of its kind in the Middle East and North Africa region, revealed that Iranian young children consume a large amount of sodium and small amount of potassium. The non-significant associations of electrolyte excretions with blood pressure may be because of the very young age group of participants. Given the development of preference to salt taste from early childhood, and the tracking of risk factors of chronic diseases from this age, reducing salt intake of young children should be emphasized.

A comparison of the ratio of patient's height to thyromental distance with the modified Mallampati and the upper lip bite test in predicting difficult laryngoscopy.

BACKGROUND: THE AIM OF THE PRESENT STUDY WAS TO COMPARE THE ABILITY TO PREDICT DIFFICULT VISUALIZATION OF THE LARYNX FROM THE FOLLOWING PREOPERATIVE AIRWAY PREDICTIVE INDICES, IN ISOLATION AND COMBINATION: modified Mallampati test (MMT), the ratio of height to thyromental distance (RHTMD) and the Upper-Lip-Bite test (ULBT). METHODS: We collected data on 603 consecutive patients scheduled for elective surgery under general anesthesia requiring endotracheal intubation and then evaluated all three factors before surgery. An experienced anesthesiologist, not informed of the recorded preoperative airway evaluation, performed the laryngoscopy and grading (as per Cormack and Lehane's classification). Sensitivity, specificity, and positive and negative predictive value, Receiver operating characteristic (ROC) Curve and the area under ROC curve (AUC) for each airway predictor in isolation and in combination were determined. RESULTS: Difficult laryngoscopy (Grade 3 or 4) occurred in 41 (6.8%) patients. The main endpoint of the present study, the AUC of the ROC, was significantly lower for the MMT (AUC, 0.511; 95% CI, 0.470-0.552) than the ULBT (AUC, 0.709; 95% CI, 0.671-0.745, P=0.002) and the RHTMD score (AUC, 0.711; 95% CI, 0.673-0.747, P=0.001). There was no significant difference between the AUC of the ROC for the ULBT and the RHTMD score. By using discrimination analysis, the optimal cutoff point for the RHTMD for predicting difficult laryngoscopy was 21.06 (sensitivity, 75.6%; specificity, 58.5%). CONCLUSION: The RHTMD is comparable with ULBT for prediction of difficult laryngoscopy in general population.

Immunomodulatory affect of R10 fraction of garlic extract on natural killer activity.

Naturally occurring modulators of carcinogenesis, including dietary compounds, can either stimulate or inhibit cancer development. Mechanisms responsible for these effects are unknown. Garlics used in this study were freshly prepared, and their effectiveness in augmenting natural killer (NK) activity was evaluated. Administration of 20 mg/kg produced an optimum augmentation of NK activity. A glycoprotein with MW of about 14 kDa was isolated from garlic extract and its activity was assessed. It could induce NK augmentation against K562 tumor cell line. In vivo studies also confirmed that Fraction Residue 10 (R10) of garlic extract partially purified by ultra filtration and further purified by chromatography could induce a resistance to the growth of spontaneous mammary carcinoma in Balb/c mice. NK cytotoxic activities were evaluated by flowcytometry.