May 9, 2023

An Attempt to comprehend children’s height, by means of A/P/C model: Han Chinese over the periods 1985 to 2019

Human height is determined by genetics and “supply of inputs to health” (Steckel, 1995) [1]. In most econometric investigations, mean height of young adults is regressed against average supply(- consumption) of essential nutrients, such as animal protein, in the final stage of human growth, say the late-adolescents (Baten, 2009; Beer, 2012; Grasgruber et al.,2016; etc.) […]

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Stroke-Like Migraine Attacks After Radiation Therapy [Smart] Syndrome Suspicion Means Prompt Diagnosis

1.1. Background: Stroke-like migraine attacks after radiation therapy [SMART] syndrome is a rare and delayed complication of radiation therapy to the brain. Less than 100 cases have been de scribed in literature since it was first reported in 1995. On average, presentation is about more than 20 years after radiotherapy and pa tient normally present

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A new mutation in FGFR1 gene (p.M771I) with no pathogenic effect on hearing loss found by Whole Exome Sequencing in an Iranian family

1.1. Objectives: Hearing loss, the second most frequent sensori neural impairment, could be associated with missense mutations in several genes involved in the development of hearing parts. The re ceptor tyrosine kinase fibroblast growth factor receptor 1 (FGFR1) is known to be expressed in the inner ear and plays an important role in the formation

A new mutation in FGFR1 gene (p.M771I) with no pathogenic effect on hearing loss found by Whole Exome Sequencing in an Iranian family Read More »

Frequency of pin tract infection among patients with tibia fracture treated with AO external fixator

1.1. Introduction: The management of open tibial fractures re mains a challenge for the orthopedic surgeons as various post-op erative complications are associated with external fixation of tibia fracture. 1.2. Objectives: To determine frequency of pin track infection among patients with tibia fracture treated with AO external fixator. 1.3. Material and Methods: This Descriptive case

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Investigation of Methylation Levels in OPRK1 Gene Promoter among Smokers and Opium-Addicts underwent Methadone Maintenance Treatment

1.1. Background: Previous studies reported the association of the OPRK1 gene with illicit substances, nicotine, and alcohol. The present study aimed to look at the methylation levels of OPRK1 gene promoter among smokers and addicts who underwent metha done maintenance treatment (MMT). 1.2. Methods: DNAs were extracted from the whole blood of all male samples

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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

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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 »

Bacteremia due to Serratia Rubidaea in ICU: Case series

Bacteremia due to S.Rubidaea is rarely described comparing with other species of Enterobacteriacae. It interests immunocompro mised patients undergoing invasive procedures. Herein, we report four cases of bacteraemia due to this pathogen in patients admitted in ICU for ketoacidosis with history of diabetes mellitus.Common ly, a catheter-related infection complicated with deep vein throm bosis was

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