Comparative Evaluation of Argyrophilic Nucleolar Organizer Regions Parameters in Benign and Malignant Breast Tumors

The aim of the paper was to evaluate the AgNOR parameters for the discrimination of benign from malignant breast tumors via a new approach -the total AgNOR area/nuclear area (TAA/NA). Material and methods. Three groups, consisting of control (n = 14), benign (n = 18) and malignant (n = 28) participants were included in the study. The AgNOR staining technique was performed and both mean AgNOR number and TAA/NA ratio were evaluated.Results. While the differences between the control and patient groups were statistically significant for AgNOR number (p 0.05). For the ratio of TAA/NA, the differences between the control and benign group (p < 0.001), control and malignant group (p < 0.001), and malignant and benign patient groups were significant. (p < 0.05).Conclusion. We consider that the evaluation of the TAA/NA rate, when compared with the AgNOR number, can be more sensitive and useful tool for distinguishing benign from the malignant breast lesions

A Novel Variant in Paired Box 3 Gene-related with Waardenburg Syndrome Type-1 in an Afghan Family

Waardenburg Syndrome (WS) is a congenital auditory-pigmentary syndrome. We, herein, present a case of a 1.5 year girl presenting with bilateral hearing impairment. Detailed examinations and molecular analyses of the proband and other family members were performed. A novel missense, heterozygous variant (c.253A>C (p.Lys85Gln)) was detected in the paired box 3 (PAX3) gene. For interpretation and classification of the variant, the American College of Medical Genetics and Genomics (ACMG) guideline was used. No previous report of this variant was found in the literature and we determined the variant according to the guide published in 2015 as likely pathogenic. We think that the clinical and genetic characterisation of the current family will contribute to knowledge for a better understanding of the genetic background of the Afghan patients with WS

Argyrophilic nucleolar organizing regions in patients with Xeroderma Pigmentosum Group E

[Abstract Not Available]WOS:0005930560000012-s2.0-85096883000PubMed: 3320041

White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations

The purpose of this study is to reveal the effect on the clinical phenotype of variants detected at family examination of a case of combined pogo transposable element derived with zinc finger domain (POGZ) gene, tubulin folding cofactor E (TBCE) gene, and short stature homeobox (SHOX) gene variation. A Turkish non-consanguineous family consisting of five members was investigated. Whole exome sequence analysis and chromosomal microarray analysis (CMA) were performed for a 2-year-old male patient (the proband) with global developmental delay, hypotonia, dysmorphia, and hot water epilepsy. Targeted sequence and chromosomal microarray analyses were performed for each family member. A heterozygous c.3908_3911delTCTG/p.V1303fs*6 variant was detected in the POGZ gene and a heterozygous c.626 T > G(p.L209X) variant in the TBCE gene in the proband. In addition, a gain of 0.1 MB was detected in the Xp22.33(602488-733497) x 3/Yp11.32(552488-683497) x 3 region at CMA. The SHOX (312865) gene defined in Online Mendelian Inheritance in Man is located in this region. While the proband's father and brother had heterozygous variations only in the TBCE gene, neither TBCE nor POGZ mutations were detected in the mother or sister. A gain in Xp22.33(419224-883640) x 3 was detected in the mother at CMA. Except for short stature and Madelung deformity, no phenotypical findings were detected in the mother. Other family members were also phenotypically normal. The family screening confirmed that dysmorphic findings and global developmental delay in the proband resulted from the variation in the POGZ gene, while short stature was caused by the gain in the Xp22.33(602488-733497) x 3/Yp11.32(552488-683497) x 3 region. In addition, the pathogenic POGZ gene variation in our patient may be a possible cause of hot water epilepsy. Heterozygous variation in the TBCE gene was clinically insignificant. Hot water epilepsy has not previously been reported in the rare patients with POGZ gene mutation. Additionally, in contrast to the previous literature, the proband exhibited no features of autism. It should also be remembered that posterior fossa abnormalities are frequently seen in these patients. We think that this case and family review involving POGZ and SHOX gene mutations will make a useful contribution to the existing literature.WOS:0006388097000022-s2.0-85104148950PubMed: 3383790

Do all Familial Mediterranean Fever (FMF) patients with recurrent chest pain have cardiac problems?

Objectives: Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive autoinflammatory genetic disorder. One of the important complications of FMF is cardiac disorder. We aimed to research the evaluation of cardiological parameters in FMF cases who had chest pain and MEFV gene variant. Design: Experimental study Setting: This study was conducted at Department of Cardiology and Medical Genetics of Duzce University, Turkey. Subject: Totally, thirty-four individuals with recurrent sharp retrosternal chest pain that exacerbate with deep inspiration and clinically diagnosed as FMF and at least one variant on MEFV gene were included in the study. Interventions: Physical and cardiological evaluation were performed and MEFV gene sequenced for each case. Main outcome measures: To determine if the chest pain is caused by cardiac problems or derived from other problems such as tendonitis, myalgia, etc. in cases with FMF Result: Seven cases (20.5%) had previous history of pericarditis. Two of these cases had small pericardial effusion and one had pericardial thickness. All three were adults. Also, one case (2.9%) had aortic regurgitation, eight cases (23.5%) had mitral regurgitation, thirteen cases (38.2%) had tricuspid regurgitation and one case (2.9%) had pulmonary regurgitation. Valvular disease is seen in over half of the cases. Conclusions: We concluded that cases with FMF who had chest pain and at least one MEFV gene variant have increased risk for cardiac problems. These cases should be routinely followed up life long for cardiac problems.WOS:0007013889000032-s2.0-8510908013

The Role of Macrophages in Atherosclerosis: An Overview

Knowlege of the mechanism of atherosclerosis in chronic and inflammatory diseases is important in health care management. According to the World Health Organization, approximately 17.9 million people die from atherosclerosis annually. Macrophages played a major role in the immune response and pathophysiology of atherosclerosis. This review presents the role of macrophage in the development of atherosclerosis.WOS:00061820740000

Heterozygous c.1730G &gt; C (p.Trp577Ser) Variation in a Case with Familial Hypercholesterolemia

Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery disease (CAD) are common in this disease due to a mutation in the LDLR, Apo-B100 or PCSK9 genes.Case report: A 4-year-old male patient with a very rare heterozygous c.1730G > C (p.Trp577Ser) variation in exon 12 of the low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As in this case, the heterozygous form may not show any symptoms in the first decade. This variation is region specific. Therefore, region-specific diagnostic criteria should be developed. Conclusion: We aimed to contribute to the literature on the development of diagnostic criteria by discussing the patient's condition with the clinical results

Expression of nucleolin, nucleophosmin, upstream binding transcription factor genes and propolis in wound models

Nucleolar proteins have important functions in the regulation of cell homeostasis and play a crucial role in sensing various types of stress, such as genotoxic stress. Propolis has epithelial, analgesic, antibacterial, antifungal and antiviral effects. This study aimed to evaluate the gene expression levels of nucleolar proteins: nucleolin (NCL); nucleophosmin (NPM1); and upstream binding transcription factor (UBTF), as well as the benefits of propolis in wound healing. Method: This experimental study was conducted by creating clean and clean contaminated wounds according to the Surgical Site Infection Guidelines, 2016. A total of seven animal groups were included in the study: control; laparotomy; anastomosis; fucidic acid with/without anastomosis; propolis with/without anastomosis Results: Statistically significant differences of levels of gene expression among the groups were detected for NCL (p=0.004), NPM1 (p=0.011) and UBTF (p=0.000). When the expression levels of the related genes and blood parameters are considered, the relationship between NCL, NPM1 and UBTF expression levels and blood parameters (NE, EO, NE(%), LY, LY(%), EO, EO(%), MO, MO(%), RBC, HB, HCT, MCV, MCHC, RDW, RDW(%), PLT, PDW and PCT) were statistically significant. Conclusion: The nucleolar proteins such as NCL, NPM1 and UBTF have important functions in cell viability and its maintenance under various condition such as stress and injury. Additionally, propolis has positive benefits in wound healing and in the prevention of wound infection. Our findings provide the first insights into the putative role of those proteins in wound healing. Declaration of interest: The authors have no conflicts of interest