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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
No full textIntellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected individuals still remain without a molecular diagnosis. Consanguineous families with affected individuals provide a unique opportunity to identify novel recessive causative genes. In this report, we describe a novel autosomal recessive neurodevelopmental disorder. We identified two consanguineous families with homozygous variants predicted to alter the splicing of ATP9A which encodes a transmembrane lipid flippase of the class II P4-ATPases. The three individuals homozygous for these putatively truncating variants presented with severe ID, motor and speech impairment, and behavioral anomalies. Consistent with a causative role of ATP9A in these patients, a previously described Atp9a�/� mouse model showed behavioral changes. © 2021, The Author(s)
Histopathological damage and stress- and immune-related genes' expression in the intestine of common carp, Cyprinus carpio exposed to copper and polyvinyl chloride microparticle
No full textThe present study aimed at assessing the singular and combined effects of water copper and polyvinyl chloride microplastic (MPVC) on intestinal copper accumulation, histopathological damage, and stress-/immune-related genes' expression in common carp, Cyprinus carpio. Four groups of fish were maintained in triplicate: control (kept in clean water), Cu (exposed to 0.25 mg/L of copper), MPVC (exposed to 0.5 mg/L of MPVC), and Cu-MPVC (exposed to 0.25 mg/L of copper + 0.5 mg/L of MPVC). After 14-day exposure, the fish of Cu and Cu-MPVC treatments exhibited significantly higher intestinal copper contents, compared to the fish of control and MPVC treatments. In this regard, the Cu-MPVC fish had significantly higher copper content than the Cu fish. Exposure to copper and/or MPVC significantly upregulated the intestinal heat shock protein 70 (hsp70), cytochrome P450 family 1 subfamily A member 1 (cyp1a1), lysozyme (lys), defensin (def), mucin 2 (muc2), and mucin 5 (muc5) expression. The highest expression of hsp70, cyp1a1, lys, and def was related to Cu-MPVC treatment; whereas, the highest expression of muc2 and muc5 was observed in Cu and MPVC treatments. Exposure to copper and/or MPVC induced intestinal damage, which Cu-MPVC fish exhibited the highest severity. The present study revealed that exposure to copper and/or MPVC causes intestinal histopathological damage and upregulation in stress- and immune-related genes' expression. The most serious effects were observed in Cu-MPVC treatment that might be due to additive effects of copper and MPVC and/or higher copper accumulation in this treatment. © 2021 Wiley Periodicals LL
Analysis of Competing Risks of Causes of Death in Cancer Patients from Golestan, Iran over Twelve Years (2004-2016)
No full textBackground: Cancer-related causes of death (cancer CoD) are the main etiologies of death in cancer patients. Recent increase in survival rates of cancer patients resulted in higher risk of dying from causes other than cancer, called competing causes of death (competing CoD). We aim to characterize competing CoD among cancer patients in Golestan province, Northern Iran. Methods: Data on cancer incidence was obtained from the Golestan population-based cancer registry (GPCR) dataset. Data on causes of death was obtained from the Golestan death registry (GDR) dataset. Using a linkage method between the GPCR and GDR dataset, we prepared the study dataset including data on vital status and causes of death in our cancer patients. The proportions of cancer CoD and competing CoD were calculated. Multivariate logistic regression analysis was considered to assess the relationship between competing CoD and other variables. Results: Overall, 4,184 cancer patients died in the study population, including 2,488 men (59.9). Cause of death in 3,455 cases was cancer and 729 cases (17.4) died due to competing CoD. Ischemic heart disease (40.7) was the most common competing CoD in our population. Higher survival rate was the strongest variable related to the competing CoD (adjusted OR=1.91; 95CI: 1.61-2.26). Residence area, age group and year of death were other indicators of competing CoD in our population. Conclusion: Our results suggest high rates of competing CoD in our cancer patients. Competing CoD should be mentioned in cancer control planning both in clinical practice as well as in public health policy making. © 2021. All Rights Reserved
Pulmonary consequences analysis of exposure to low concentrations of ammonia: A historical cohort study in fertilizer industries
No full textBackground and Objectives: Pulmonary consequences of exposure to low concentrations of ammonia have been less studied. The purpose of this study was to model the pulmonary consequences of exposure to low concentrations of ammonia. Methods: This historical cohort study was conducted in the fertilizer industries in 2019. The participants were divided into two groups of exposed (n=98) and non-exposed (n=105). The exposure level, pulmonary symptoms, and pulmonary function parameters were assessed using the NMAM 6016 and American Thoracic Society and European Respiratory society (ATS&ERS) protocols. Data analysis was performed using the IBM SPSS v. 22.0, and multivariate linear and logistic regression models. Results: The ammonia exposure level was 4.80±1.54 ppm in the exposed group. There was no significant difference in most of the individual variables between the two groups (P>0.05). The frequency of all pulmonary symptoms was significantly higher in the exposed group compared to the non-exposed group (P<0.05). The highest prevalence of pulmonary symptoms in the exposed group was for cough (25.51), wheezing (19.39) and shortness of breath (18.37). All lung function parameters were significantly lower in the exposed group versus the non-exposed group (P<0.05). The values of lung function parameters in the exposed group including FVC, FEV1 and FEV1 / FVC were 86.0, 82.47 and 81.97, respectively. Regression modeling results showed that ammonia exposure had a significant relationship with all pulmonary symptoms and lung function parameters (P<0.05). Conclusion: The findings indicated that exposure to low concentrations of ammonia should be considered as a major risk factor in the prevalence of pulmonary symptoms and reduced lung function parameters. © 2021 The Authors
Antibiotic resistance, biofilm formation, and biofilm-associated genes among Stenotrophomonas maltophilia clinical isolates
No full textObjective: The purpose of the present study was to investigate the antimicrobial susceptibility pattern, biofilm production, and the presence of biofilm genes among the S. maltophilia clinical isolates. A total of 85 clinical isolates of S. maltophilia were collected from patients referred to several hospitals. Susceptibility to antibiotics was investigated by disc diffusion method according to the guidelines of the Clinical and Laboratory Standards Institute (CLSI). By the crystal violet staining method, the capability of biofilm formation was examined. The genes associated with biofilm production were investigated by the PCR-sequencing techniques. Results: All isolates were resistant to doripenem, imipenem, and meropenem. Minocycline, trimethoprim/sulfamethoxazole and levofloxacin exhibited the highest susceptibility of 100, 97.65, and 95.29, respectively. The results of crystal violet staining assay showed that all isolates (100) form biofilm. Moreover, 24 (28.23), 32 (37.65), and 29 (34.12) of isolates were categorized as weak, moderate, and strong biofilm producers, respectively. Biofilm genes including rpfF, spgM and rmlA had an overall prevalence of 89.41 (76/85), 100 (85/85) and 84.71 (72/85), respectively. Rational prescribing of antibiotics and implementation of infection control protocols are necessary to prevent further infection and development of antimicrobial resistance. Combination strategies based on the appropriate antibiotics along with anti-biofilm agents can also be selected to eliminate biofilm-associated infections. © 2021, The Author(s)
The Possible Role of Vitamin D Deficiency in Early Implant Failure
No full textBackground. Dental implants are one of the most successful treatments for restoring tooth function and beauty. Identifying the causes of dental implant failure is useful and vital. This review was aimed at studying the possible role of vitamin D in early implant failure. Method and Material. This review was designed based on the PRISMA guideline. Data was collected using keywords including implant, vitamin D, deficiency, failure, dental, OR tooth in international databases including PubMed, Scopus, Web of Science, Cochrane, and Embase, until 2020. Based on the inclusion and exclusion criteria, data were extracted and gathered in a checklist. Results. Finally, twelve studies were selected from five different countries. In 6 studies (2 animal studies and four human studies), there was no significant relationship between vitamin D deficiency and dental implant failure. In the other six studies (1 animal study and five human studies), there was a significant relationship in this regard. Conclusion. It is difficult to conclude the association between vitamin D and implant failure based on the literature's researches. However, vitamin D appears to play an essential role in implant success through its effects on immune system modulation. © 2021 Lotfollah Kamali Hakim et al
Case Report: Detection of SARS-CoV-2 From Cerebrospinal Fluid in a 34-Month-Old Child With Encephalitis
No full textNovel coronavirus (severe acute respiratory syndrome-coronavirus-2: SARS-CoV-2), which arose from Wuhan, China, has rapidly spread to other countries and developed into a pandemic. Although the respiratory manifestations of SARS-CoV-2 are well-documented, there is a considerable challenge regarding the direct and/or indirect infection in other organs. Several preliminary reports confirmed neurological manifestations in the SARS-CoV-2-infected patients. Here, we report the detection of SARS-CoV-2 from the nasopharyngeal swab and cerebrospinal fluid (CSF) in a 34-month-old child with encephalitis. This finding expands the spectrum of the neurological manifestations associated with SARS-CoV-2 infection. © Copyright © 2021 Cheraghali, Tahamtan, Hosseini, Gharib, Moradi, Razavi Nikoo and Tabarraei
STO: Stroke Ontology for Accelerating Translational Stroke Research
No full textIntroduction: Ontology-based annotation of evidence, using disease-specific ontologies, can accelerate analysis and interpretation of the knowledge domain of diseases. Although many domain-specific disease ontologies have been developed so far, in the area of cardiovascular diseases, there is a lack of ontological representation of the disease knowledge domain of stroke. Methods: The stroke ontology (STO) was created on the basis of the ontology development life cycle and was built using Protégé ontology editor in the ontology web language format. The ontology was evaluated in terms of structural and functional features, expert evaluation, and competency questions. Results: The stroke ontology covers a broad range of major biomedical and risk factor concepts. The majority of concepts are enriched by synonyms, definitions, and references. The ontology attempts to incorporate different users� views on the stroke domain such as neuroscientists, molecular biologists, and clinicians. Evaluation of the ontology based on natural language processing showed a high precision (0.94), recall (0.80), and F-score (0.78) values, indicating that STO has an acceptable coverage of the stroke knowledge domain. Performance evaluation using competency questions designed by a clinician showed that the ontology can be used to answer expert questions in light of published evidence. Conclusions: The stroke ontology is the first, multiple-view ontology in the domain of brain stroke that can be used as a tool for representation, formalization, and standardization of the heterogeneous data related to the stroke domain. Since this is a draft version of the ontology, the contribution of the stroke scientific community can help to improve the usability of the current version. © 2021, The Author(s)
THE SIMVASTATIN EFFECT on ACETYL COA CARBOXYLASE1 and FATTY ACID SYNTHASE GENE EXPRESSION in RAT FED with HIGH FAT DIETS and ITS ASSOCIATION with FATTY ACID PROPORTION and CONCENTRATION
No full textThe aim of study was to determine the effect of different dosages of simvastatin on gene expression of Acetyl CoA Carboxylase 1 (ACC1) and Fatty Acid Synthase (FAS) in Wister rat hepatic tissues fed with high fat diets (HFD) and its association with serum fatty acid proportion and concentration. Four groups of rats (G1 to G4) were included. ACC1 and FAS expressions were analyzed by Real time quantitative polymerase chain reaction. Fatty acid concentration was measured by gas chromatography. There were significant differences when G4 versus G3, G4 and G3 versus G1 and G4 and G3 versus G2 was compared for total fatty acid concentration. The proportion of oleic acid to stearic acid showed significant decrease when G4 versus G3, G4 versus G2 and G4 versus G1 groups were compared, but the proportion of stearic acid to palmitic acid, linoleic acid to oleic acid (G3 versus G4) and oleic acid to palmitic acid in G4 increased when compared to G1, G2 and G3 groups. Treatment with simvastatin significantly increases or decreases some fatty acid ratio, serum fatty acid and total fatty acid concentrations. We also found that HFD led to no significant differences in ACC1 and FAS mRNA expression. Simvastatin increases proportion of linoleic acid to oleic acid, oleic acid to palmitic acid and oleic acid to stearic acid. Thus, statin therapy may be considered in prevention of cardiovascular and myocardial risk. © 2021 Assiut University. All rights reserved