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

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

Investigation Of Mutagenic Effects Of Grayanotoxins II And III On Cultured Human Lymphocytes

In order to detect the mutagenic effects of Gryanotoxins (GTX) II and III on human lymphocytes, two lymphocyte culture sets, one for micronuclei and other for chromosome analysis, were prepared. GTX-II and GTX-III at 3.52 mg/ml and 0.352 mg/ml concentrations were added to the lymphocyte cultures of ten female and ten male subjects by standard protocols. Then, the obtained data were compared with that of positive and negative control groups. Consequently, mean MN and chromosomal aberration values of twenty subjects were not considerably higher than those of negative control group (p >0.05). Only positive control group showed higher MN and chromosomal breakage values than the other groups (p <0.001). In conclusion, the usage of the GTX-II and GTX-III containing mad honey as a folk remedy may not cause chromosomal damage

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

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene

Purpose: The current study aims to raise awareness of Boucher - Neuhauser syndrome (BNHS) that occurs as a rare phenotype due to biallelic pathogenic variants in the PNPLA6 gene. Methods: Detailed family histories and clinical data were recorded. Whole exome sequencing was performed and co-segregation analysis of the family was done by sanger sequencing. Also, review of 28 molecularly confirmed patients with BNHS from the literature was evaluated. Results: We identified a missense homozygous variant (c.3524 C > G (p.Ser1175Cys)) in the PNPLA6 gene, which explains the phenotype of the patient and neurologic, ophthalmologic, endocrine, and genetic evaluations established a diagnosis of BNHS. Symptoms, ethnicity, clinical and genetic findings of 28 molecularly confirmed patients with BNHS from the literature were also presented. Conclusion: We present the main findings of a Turkish family with BNHS together with detailed clinical and genetic profiles of patients diagnosed as BNHS that have been molecularly confirmed in the literature so far.WOS:0006247491000012-s2.0-85106573363PubMed: 3365046

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

May Argyrophilic Nucleolar Organizer Regions Be Used as a Biomarker for the Detection of the Degree of Ischemic Damage Instead of Tunel in Testicular Torsion?

Background and Objectives: It is of great importance to obtain information about the severity of ischemic damage and duration of testicular torsion for an effective treatment strategy. Nucleolar-organizing regions (NORs) are sites of the ribosomal genes composed of ribosomal DNA and proteins. Post-silver staining NORs are termed “AgNOR”. Since AgNORs clearly reveals the self-renewal potential of cells damaged in ischemic events, we performed the current study. Materials and Methods: The study was carried out in four groups as control, sham, early, and late T/D. In the surgical groups, testes were corrected after a 4-h ischemia period. Testicular tissue samples were taken on the third day after detorsion in group 1, 2, 3, and on the tenth day after detorsion in group 4. TUNEL and silver stainings were applied to all samples. Results: The differences were significant among the groups for both mean AgNOR number and total AgNOR area/total nuclear area (TAA/TNA). Moreover, the differences between control and early torsion-detorsion (T/D), between control and late T/D, between sham and early T/D, between sham and late T/D, and between early T/D and late were statistically significant for AgNOR amount. Furthermore, statistically significant differences among the groups for an average number of apoptotic cells per tubule and the percentage of apoptotic tubule values were detected. Discussion: The apoptotic index gives the ratio of cells that are damaged and will die in a programmed way and cells that remain intact, rather than show the viability of the returning testicle. However, by measuring cells that regenerate with AgNOR, we can show not only those that survive but also cells that can repair themselves. Conclusion: AgNOR proteins are usable for the early observation of ischemic injury levels. The amount of AgNOR protein can enlighten us about the extent of testicular damage after T/D treatment. It may also help the physician in the development of effective treatment strategies for cases