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Total 31931 results found since Jan 2013.
Novel insight into the phenotype of microcephaly 19 in the patient with missense COPB2 mutation
This study describes a missense pathogenic homozygous variant (NM_004766.3:c.760 C > T, p.Arg254Cys) in the COPB2 gene, which was identified by Whole-Exome sequencing and confirmed by Sanger sequencing. The proband of the present study is an eight-and-a-half-year-old Iranian female who was born to consanguineous parents. She manifests global developmental delay, intellectual disability, microcephaly, seizures, spasticity, strabismus, and failure to thrive symptoms. Moreover, she is unable to stand, walk, or speak. Here we report the second homozygous mutation (NM_004766.3:c.760 C > T, p.Arg254Cys) in the COPB2 gene i...
Source: European Journal of Medical Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Amirmasoud Shiri Hossein Jafari Khamirani Neda Kamal Jamal Manoochehri Mehdi Dianatpour Seyed Mohammad Bagher Tabei Seyed Alireza Dastgheib Source Type: research
A novel < em > METTL5 < /em > variant disrupting a donor splice site leads to primary microcephaly-related intellectual disability in an Iranian family: clinical features and literature review
In this study, due to the genetic heterogeneity of the disease, the whole-exome sequencing (WES) was performed on a 13-year-old boy suffering from microcephaly. In addition, Sanger sequencing, cosegregation analysis, and structural modelling were performed to identify and verify the causative variant in the proband and obligate carriers in the family. WES revealed a novel, homozygote 10-bp deletion in the donor splice site of 2nd exon of METTL5 gene (NM_014168:c.223_224?8del), which was found segregating with the phenotype in the pedigree. This variant meets the criteria of being pathogenic according to the American Colleg...
Source: Journal of Genetics - September 21, 2023 Category: Genetics & Stem Cells Authors: Fatemeh Shakarami Zahra Nouri Hossein Khanahmad Mohamadreza Ghazavi Mohammad Amin Tabatabaiefar Source Type: research
Central retinal vein and artery occlusion associated with sildenafil: a case report and review of the literature
ConclusionSildenafil may be associated with severe retinal vascular accidents in otherwise healthy young individuals.
Source: Journal of Medical Case Reports - September 20, 2023 Category: General Medicine Source Type: research
Global Bibliometric Analysis of Leishmaniasis Literature for the Last 20 Years and Investigating the Contribution of T ürkiye
CONCLUSION: The number of publications, especially in endemic areas, was found to be limited other than Brazil. Studies in this area should be supported to ensure the eradication of the disease.PMID:37724362 | DOI:10.4274/tpd.galenos.2023.76376
Source: Turkish Society for Parasitology - September 19, 2023 Category: Parasitology Authors: Sevil Alkan O ğuz Evlice Mustafa Serhat Şahinoğlu Source Type: research
Effect of interferon- α on COVID-19 in-hospital mortality: a large-scale propensity score-matched study
CONCLUSION: Our findings indicate that subcutaneous administration of IFN-α, with or without remdesivir, does not have any significant impact on COVID-19 mortality and ICU admission. Future clinical trials considering the time, subtype, and form of IFN-α administration are warranted to investigate the potential therapeutic effects of IFN-α on COVID-19.PMID:37724852 | DOI:10.1684/ecn.2023.0485
Source: Cancer Control - September 19, 2023 Category: Cancer & Oncology Authors: Mohamad Amin Pourhoseingholi Amirreza Rafiei Javazm Naghmeh Asadimanesh Fatemeh Shojaeian Mehdi Azizmohammad Looha Seyed Amir Ahmad Safavi-Naini Benyamin Mohammadzadeh Parnian Jamshidi Fatemeh Gholampoor Omid Yazdani Nadia Zameni Zahra Azizan Amirhossein Source Type: research
Global Bibliometric Analysis of Leishmaniasis Literature for the Last 20 Years and Investigating the Contribution of T ürkiye
CONCLUSION: The number of publications, especially in endemic areas, was found to be limited other than Brazil. Studies in this area should be supported to ensure the eradication of the disease.PMID:37724362 | DOI:10.4274/tpd.galenos.2023.76376
Source: Turkish Society for Parasitology - September 19, 2023 Category: Parasitology Authors: Sevil Alkan O ğuz Evlice Mustafa Serhat Şahinoğlu Source Type: research
A Review on the Antibiotic Resistance of < em > Shigella < /em > Strains in Iran
Infect Disord Drug Targets. 2023 Aug 31. doi: 10.2174/1871526523666230811093114. Online ahead of print.ABSTRACTShigella infection is commonly related to diarrhea and has been a noteworthy source of morbidity and mortality worldwide. There is a wide range of symptoms associated with these contagious microorganisms, from watery diarrhea to fulminant dysentery manifesting with recurrent bloody stools, fever, and prostration. While the mortality rate from Shigellosis has decreased significantly during the past three decades, it remains a principal cause of death in the world. The use of antibiotics in Shigella treatment remark...
Source: Infectious Disorders Drug Targets - September 19, 2023 Category: Infectious Diseases Authors: Mahdi Shooraj Marziye Taheri Mohammadmahdi Karimi-Yazdi Source Type: research
Evaluation of safety and efficacy of allogeneic adipose tissue-derived mesenchymal stem cells in pediatric bronchiolitis obliterans syndrome (BoS) after allogeneic hematopoietic stem cell transplantation (allo-HSCT)
CONCLUSIONS: AT-MSCs could be safely administered to our pediatric cases with BoS post-allo-HSCT. Considering their advanced stage of disease, their sub-optimal functional capacity due to steroid-induced complications, and COVID-19 infection post-treatment, we believe that AT-MSC therapy can have possible efficacy in the management of pediatric BoS. The conduction of further studies with larger sample sizes and more frequent injections is prudent for further optimization of AT-MSC therapy against BoS. Trial registration Iranian Registry of Clinical Trials (IRCT), IRCT20201202049568N2. Registered 22 February 2021, https://e...
Source: Cell Research - September 19, 2023 Category: Cytology Authors: Rashin Mohseni Pouya Mahdavi Sharif Maryam Behfar Mohammad Reza Modaresi Rohola Shirzadi Mahta Mardani Leila Jafari Fahimeh Jafari Zeynab Nikfetrat Amir Ali Hamidieh Source Type: research
Violation of Food Advertising Regulations in Iran: A Systematic Review
Conclusions: The results of this study indicated a violation of the rules and regu lations of health policies, mainly in the field of promoting foods of low nutritional value during the study period. Violations of the ban on advertising for children were also reported in more than half of the studies.
Source: International Journal of Preventive Medicine - September 19, 2023 Category: International Medicine & Public Health Source Type: research
Persian version of the Chalder Fatigue Questionnaire and Multidimensional Fatigue Symptom Inventory-Short Form: psychometric properties in Iranian chronic stroke survivors
CONCLUSIONS: The results of this study showed that the CFQ and MFSI-SF have high reliability and validity for chronic stroke survivors.PMID:37723098 | DOI:10.1080/10749357.2023.2175421
Source: Topics in Stroke Rehabilitation - September 18, 2023 Category: Neurology Authors: Soheila Fallah Ghorban Taghizadeh Zahra Parnain Moslem Cheraghifard Parvaneh Taghavi Azar Sharabiani Mahin Yousefi Mohammad Taghi Joghataei Ali Gholizade Source Type: research
Genetic diversity of Staphylococcus aureus isolated from ear infections in Iran: Emergence of CC8/ST239-SCCmec III as major genotype
This study highlighted genetic variability and strong biofilm formation ability among our isolates revealing its crucial role in enhancing the resistance of this bacteria to drugs. Thus, it is necessary to continue the epidemiological analysis to improve the control of ear infections related to S. aureus.PMID:37721867 | DOI:10.1556/030.2023.02081
Source: Acta Microbiologica et Immunologica Hungarica - September 18, 2023 Category: Microbiology Authors: Zahra Rahmani Sareh Sadat Hosseini Parmida Bagheri Mehdi Goudarzi Source Type: research
Characterization of microplastics in the atmosphere of megacity Tehran (Iran)
In this study, the characteristics of ambient airborne microplastics were investigated in Tehran to obtain insights into their origins. For this purpose, sampling operations took place at locations with different backgrounds in summer and autumn by using TSP and PM10 high-volume samplers. As a result of microscopic analysis and Raman spectroscopy, the color, shape, number, size, and type of microplastic particles were investigated. Seven types of chemical structures were identified in the particles, among which polypropylene (18.7%) in summer and polystyrene (20%) in autumn had the dominant share. The average number of par...
Source: Environmental Science and Pollution Research International - September 18, 2023 Category: Environmental Health Authors: Sam Dehhaghi Alireza Pardakhti Source Type: research
