Publications by authors named "Gholamhossein Yaghoobi"

3 Publications

  • Page 1 of 1

A pathogenic variant in the transforming growth factor beta I () in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Iran J Basic Med Sci 2020 Aug;23(8):1020-1027

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Objectives: Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.

Materials And Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was used for mutation detection. Co-segregation and analysis was accomplished.

Results: Patients suffered from GCD. NGS disclosed a known pathogenic variant, c.371G>A (p.R124H), in exon 4 of . The variant co-segregated with the phenotype in the family. Homozygous patients manifested with more severe phenotypes. Variable expressivity was observed among heterozygous patients.

Conclusion: The results, in accordance with previous studies, indicate that the c.371G>A in TGFBI is associated with GCD. Some phenotypic variations are related to factors such as modifier genes, reduced penetrance and environmental effects.
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http://dx.doi.org/10.22038/ijbms.2020.36763.8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478261PMC
August 2020

The History of Trachoma and Current Prevalence (Spotlight on Iran): A Review Article.

Iran J Public Health 2018 Oct;47(10):1458-1465

Infectious Diseases Research Center, Birjand University of Medical Sciences, Birjand, Iran.

Background: Trachoma as a common cause of infectious blindness is caused by . This study aimed to review the available data from variety of sources and provide an overview of the epidemiological situation of Trachoma in Iran focused on the past seventy five years.

Methods: A literature search of English and Farsi articles regarding trachoma in Iran from the electronic databases and paper documents was performed. Original articles, case reports and letters were included.

Results: By the early and mid-20 century, trachoma was widely endemic with the prevalence rate of more than 60% in Iran. Currently, trachoma prevalence is significantly lower than in the past and the elimination of trachoma is achievable in the near future. The decline in active disease is mainly attributed to improvement of socio-economic situation and personal and environmental hygiene rather than targeted interventions for epidemic control.

Conclusion: Elimination of trachoma in Iran is achievable. However, trachoma prevalence estimation is required to be interpreted with some caution. Uncertainty around these estimates is partly because of the mismatch between the presence of infection and clinical findings.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277721PMC
October 2018

Diabetic retinopathy risk factors: plasma erythropoietin as a risk factor for proliferative diabetic retinopathy.

Korean J Ophthalmol 2014 Oct 18;28(5):373-8. Epub 2014 Sep 18.

Department of Ophthalmology, Birjand University of Medical Science, Birjand, Iran.

Purpose: The purpose of this study was to evaluate whether any stage of diabetic retinopathy (DR) is associated with levels of plasma erythropoietin and other plasma parameters.

Methods: It was examined a representative sample of 180 type 2 diabetes patients aged 40 to 79 years. Ophthalmic examination including a funduscopic examination, performed by an experienced ophthalmologist and the retinal finding were classified according to the grading system for diabetic retinopathy of ETDRS (Early Treatment Diabetic Retinopathy Study). It was measured the levels of plasma erythropoietin, cholesterol, triglyceride, apolipoproteins A and B, C-reactive protein, fasting blood glucose and hemoglobin A1C (HbA1C) in 88 DR patients and 92 controls without DR. Risk factors correlated with DR were compared between groups.

Results: The study group of 180 patients included 72 males and 108 females. The mean age of the patients with and without DR was 57.36 ± 8.87 years and 55.33 ± 8.28 years, respectively. Of the 88 patients with DR, only 9 (10%) had proliferative DR and the rest suffered from non-proliferative DR. The mean plasma levels of erythropoietin in proliferative DR group showed a significant difference in comparison to other groups. The mean plasma levels of cholesterol, triglyceride, apolipoproteins A and B, C-reactive protein, and fasting blood glucose were not significantly different in the three groups except for HbA1C. The absolute relative risk (ARR) also showed that erythropoietin was an increasing risk for proliferative DR (ARR, 1.17; 95% confidence interval, 1.060 to 1.420; odds ratio,1.060).

Conclusions: Of the factors studied, erythropoietin level showed significant increase in proliferative DR group. The stepwise raised in mean plasma erythropoietin level which demonstrates significant correlation with proliferative DR versus remaining two groups, will be an indication of its role in proliferative DR.
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http://dx.doi.org/10.3341/kjo.2014.28.5.373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4179113PMC
October 2014