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Genetic work-up for the rare new mutations causing musculoskeletal and spine pain

1.1. Background: Spine pain is widespread due to degenerative disc disease and facet arthropathy. Most patients improve with supportive conservative care measures, including non-steroidal anti-inflammatories, physical therapy, short episodes of rest, and activity modification. Medical and interventional pain manage ment is reserved for those patients who do not improve within 4 to 6 weeks of […]

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Investigation of Methylation Levels in COMT Gene Promoter among Smokers and Opium Addicted Individuals Undergoing Methadone Treatment

1.1. Background: Previous studies have demonstrated that the COMT gene is associated with alcohol, nicotine, and illicit sub stances. The aim of the present study was to examine the methyla tion status of a remarkable region in the COMT gene promoter in methadone-treated smokers and addicts. Methods: All male sam ples, including 30 smokers, 30

Investigation of Methylation Levels in COMT Gene Promoter among Smokers and Opium Addicted Individuals Undergoing Methadone Treatment Read More »

A new de novo mutation in HTRA1 gene associated with painful Ataxia, developmental delay, and autistic behaviors symptoms in an Iranian boy through Whole Exome Sequencing followed by homology modeling

1.1. Introduction: Due to the insufficiency of understanding about Dominant Arteriopathy with Subcortical Infarcts and Leukoen cephalopathy (CADASIL) in general clinical studies, the process of diagnosis for most CADASIL patients is complex and often prolonged. The disease’s symptomatic heterogeneity, which hap pens frequently even among family members, increases the com plexity of diagnosis. 1.2. Methods:

A new de novo mutation in HTRA1 gene associated with painful Ataxia, developmental delay, and autistic behaviors symptoms in an Iranian boy through Whole Exome Sequencing followed by homology modeling Read More »

New frameshift in PAX6 and missense mutation in EYA1 gene found by Whole Exome Sequencing associated with severe eye impairments in an Iranian Family

1.1. Introduction: Previous studies have examined the impacts of PAX6 mutations on a wide range of eye impairments. Because of the PAX6 protein’s binding functions, alterations in its structure may prevent it from correctly connecting with the DNA molecule. 1.2. Materials and Methods: Whole Exome Sequencing [WES] was used to perform in vitro analysis on

New frameshift in PAX6 and missense mutation in EYA1 gene found by Whole Exome Sequencing associated with severe eye impairments in an Iranian Family Read More »

Logistic Multiple Regression Analysis of CT Image Evaluation of Wrist Arthroscopy-assist ed Small Incision Treatment on Postoperative Healing and Wrist Function of Patients with Distal Radius Fractures

1.1. Objective: To assess the postoperative healing of patients with distal radius fractures treated with wrist arthroscopy-assisted small incision and its effect on wrist function using CT images combined with Logistic multiple regression analysis. 1.2. Methods: 166 patients with distal radius fracture were ran domly divided into control group (open reduction and internal fixation) and

Logistic Multiple Regression Analysis of CT Image Evaluation of Wrist Arthroscopy-assist ed Small Incision Treatment on Postoperative Healing and Wrist Function of Patients with Distal Radius Fractures Read More »

A Novel Heterozygous Mutation of Slc12a3 Gene in a Chinese Pedigree With Gitelman Syndrome

1.1. Objective: Gitelman syndrome (GS) is an autosomal reces sive tubular disorder characterized by metabolic alkalosis, hypo kalemia, hypomagnesemia and hypocalciuria. GS is mostly caused by inactivating mutations of the SLC12A3 gene. The purpose of this study was to describe the clinical features of a GS patient and investigate the underlying mutations of SLC12A3 gene

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Comparison of Functional Outcomes of above Elbow Backslab Versus Close Reduction and Percutaneous Pinning in Supracondylar Humerus Fracture in Kids

Closed reduction and percutaneous pinning under image intensifi er is now the treatment of choice for most of the displaced supra condylar fractures of the humerus in children. 1.1. Objective: To compare the functional outcomes of above el bow backslab versus close reduction and percutaneous pinning in supracondylar humerus fracture in kids. 1.2. Materials And

Comparison of Functional Outcomes of above Elbow Backslab Versus Close Reduction and Percutaneous Pinning in Supracondylar Humerus Fracture in Kids Read More »

Correlation of IL-6 and C-reactive protein levels with the stage, differentiation and types of colorectal cancer-A cross sectional study

Interleukin-6(IL-6) and CRP have been involved in anti-inflam matory reaction and autoimmune diseases. Interleukin is known for enabling cancer growth and is essential for tumour-directed immune response. CRP modulates inflammatory responses and stimulate platelet and leukocyte responses associated with acute phase responses to tumour growth. Its accumulation in blood is as sociated with a low-level

Correlation of IL-6 and C-reactive protein levels with the stage, differentiation and types of colorectal cancer-A cross sectional study Read More »

A Rare Case of Locally Advanced Sinonasal Lymphoepithelial Carcinoma

Sinonasal lymphoepithelial carcinoma (SLEC) is an extremely rare malignant tumor of the sinonasal tract. In this case report, we present a case with locally advanced disease of the posterior ethmoid cells. We also aim to review the clinical, radiological and pathological features, as well as the available treatment strategies, contributing to the literature of this

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Rare Primary Thymic Т-Lymphoblastic Lymphoma In Childhood- Сlinical Case From Our Practice

As stated in the current World Health Organization classification, T-lymphoblastic leukemia/lymphoma is a neoplasm of lympho blasts committed to T-cell lineage involving bone marrow (BM), blood, or presenting as a tissue-based mass involving the thymus, lymph nodes, or extranodal sites. We present a 10 -year -old boy who is a family -burdened mucoviscidosis. Imaging studies

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