scholarly journals A novel compound heterozygous variant in cyp19a1 resulting in aromatase deficiency with normal ovarian tissue

2020 ◽  
Vol 62 (5) ◽  
pp. 826
Author(s):  
Sezer Acar ◽  
İbrahim Mert Erbaş ◽  
Ahu Paketçi ◽  
Hüseyin Onay ◽  
Tufan Çankaya ◽  
...  
Keyword(s):  
Ovarian Tissue ◽  
Compound Heterozygous ◽  
Normal Ovarian Tissue ◽  
Heterozygous Variant

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency

2021 ◽  
Author(s):  
Ya‐nan Hu ◽  
Yu‐mian Gan ◽  
Yan‐ping Zhang ◽  
Dan‐dan Ruan ◽  
Yao‐bin Zhu ◽  
...  
Keyword(s):  
Factor Vii ◽  
Compound Heterozygous ◽  
Hereditary Factor ◽  
Factor Vii Deficiency ◽  
Heterozygous Variant

scholarly journals Mining expression and prognosis of FOLR1 in ovarian cancer by using Oncomine and Kaplan-Meier plotter

Pteridines ◽  
2019 ◽  
Vol 30 (1) ◽  
pp. 158-164
Author(s):  
Qingyuan Su ◽  
Qingyuan Lv ◽  
Ruijin Wu
Keyword(s):  
Ovarian Cancer ◽  
Mrna Expression ◽  
Ovarian Tumor ◽  
Ovarian Tissue ◽  
Progression Free Survival ◽  
Free Survival ◽  
Normal Ovarian Tissue ◽  
Oncomine Database ◽  
Kaplan Meier ◽  
Kaplan Meier Plotter

Abstract Objective: To further explore folate receptor 1 (FOLR1) gene expression in ovarian cancer and its association with patients’ prognosis by deep mining the Oncomine and Kaplan-Meier plotter databases. Methods: FOLR1 mRNA expression data of ovarian cancer were retrieved from the Oncomine database and further analyzed by comparing tumor to healthy tissue. The prognostic value of FOLR1 in ovarian cancer was analyzed by Kaplan-Meier Plotter, an online survival analysis database. Results A total of 439 studies were included in the Oncomine database in multiple types of cancers. Of the 439 studies, there were 54 with statistical differences for the expression of FOLR1, 19 with increased expression of FOLR1 and 35 with decreased expression comparing ovarian cancer to normal ovary tissue. After searching the Oncomine database, six datasets were discovered comparing the mRNA expression in ovarian tumor to healthy tissue. FOLR1 mRNA expression in ovarian tumor was significantly higher than that of normal ovarian tissue (all p<0.05). The Kaplan-Meier Plotter database analyzed the correlation between FOLR1 expression and ovarian cancer patient’s prognosis. A significant difference of progression-free survival between FOLR1 high and low expressing groups was found in ovarian cancer patients (HR=1.14, 95%CI: 1.00-1.29, p=0.043). However, the overall survival was not statistically different between high and low FOLR1 expressing patients (HR=0.95, 95%CI: 0.84-1.09, p=0.48). Conclusion FOLR1 mRNA was found to be highly expressed in ovarian tumor compared to normal ovarian tissue. Elevated FOLR1 mRNA expression was associated with the poor progression-free survival.

Heparanase-2 Expression in Normal Ovarian Epithelium and in Benign and Malignant Ovarian Tumors

2009 ◽  
Vol 19 (9) ◽  
pp. 1494-1500 ◽  
Author(s):  
Joel Pereira de Moura ◽  
Sérgio Mancini Nicolau ◽  
João Norberto Stávale ◽  
Maria Aparecida da Silva Pinhal ◽  
Leandro Luongo de Matos ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Cell Adhesion ◽  
Quantitative Analysis ◽  
Malignant Tumors ◽  
Ovarian Tissue ◽  
Expression Index ◽  
Normal Ovarian Tissue ◽  
Ovarian Neoplasia ◽  
Enzymatic Expression ◽  
Malignant Neoplasia

Introduction:Studies have highlighted the changes that take place in the environment between the cell and the extracellular matrix during the process of neoplastic expansion. Several papers have associated the expression of heparanase 1 with various malignant tumors. Heparanase 2 is probably related to loss of cell adhesion.Objective:The aim of this study was to evaluate the expression of heparanase 2 in epithelial neoplasia of the ovaries and in samples of normal ovarian tissue.Methods:Seventy-five ovary specimens were analyzed and divided into 3 groups: 23 malignant and 35 benign epithelial ovarian neoplasia and 17 without ovarian disease. We used 2 methodological techniques for evaluating the immunoexpression of heparanase 2. The first followed the qualitative criterion of positive or negative in relation to enzymatic expression, and the second involved computerized quantification of this expression, performed on the same slides.Results:In the quantitative analysis, we found positivity indices for heparanase 2 expression of 72.2% and 87.3% in the samples of benign and malignant neoplasias, respectively. In these, the intensity of expression and the expression index were 147.2 and 121.2, respectively, for the benign neoplasia and 134.1 and 118.0 for the malignant neoplasia. Qualitatively, its expression was strong or moderate in 44.2% of the benign and 78.2% of the malignant tumors; its expression in all of the nonneoplastic samples was negative, with the exception of one that was weakly positive.Conclusions:Heparanase 2 is involved in neoplastic proliferation, but it was not exclusively associated with the malignant process. Furthermore, there was no difference in its expression between benign and malignant ovarian epithelial neoplasia.

Mutation spectrum of NDP, FZD4 and TSPAN12 genes in Indian patients with retinopathy of prematurity

2017 ◽  
Vol 102 (2) ◽  
pp. 276-281 ◽  
Author(s):  
Sonika Rathi ◽  
Subhadra Jalali ◽  
Ganeswara Rao Musada ◽  
Satish Patnaik ◽  
Divya Balakrishnan ◽  
...  
Keyword(s):  
Retinopathy Of Prematurity ◽  
Clinical Manifestations ◽  
Study Cohort ◽  
Compound Heterozygous ◽  
Low Frequencies ◽  
Indian Patients ◽  
Intron 1 ◽  
Heterozygous Variant ◽  
Novel Variants ◽  
Preterm Babies

AimRetinopathy of prematurity (ROP) is a vasoproliferative eye disease in preterm infants. Based on its phenotypic similarities with familial exudative vitreo retinopathy (FEVR), the present study was conducted to screen the Norrin signalling pathway genes (already been implicated in FEVR) for understanding their involvement among Indian patients with ROP.MethodsThe study cohort consisted of patients with ROP (n=246) and controls (n=300) that included full term (n=110) and preterm babies devoid of ROP (n=190). Screening of the NDP, FZD4, TSPAN12 genes were accomplished by resequencing the entire coding and untranslated regions (UTR). The genotype data of the patients with ROP were analysed in the background of their clinical manifestations and further analysed in conjunction with other available data on these genes worldwide.ResultsTwo novel variants in intron 1 (IVS1 +16A>G) and 3′UTR (c.5 22T>C) along with a previously reported change in the 5′UTR (c.395_409del14bp) were observed in the NDP gene in three patients with ROP. Screening of the FZD4 revealed four heterozygous variants, p.(Pro33Ser), p.(Pro168Ser), p.(Ile192Ile) and p.(Ile360Val), a compound heterozygous (p.(Pro33Ser)/p.(Pro168Ser)) and a 3′UTR (c*G>T) variants in the study cohort. Variants p.(Pro33Ser) and p.(Pro168Ser) were found to be significantly associated with ROP. A heterozygous variant p.(Leu119Arg) in TSPAN12 gene was observed in a patient with threshold ROP. However, a formal genotype–phenotype correlation could not be established due to the low frequencies of the variant alleles in these genes.ConclusionsThis is a first study that revealed association of few variants in Norrin signalling genes among Indian patients with ROP that warrants further detailed investigation worldwide.

scholarly journals Analysis of risk factors for the removal of normal ovarian tissue during laparoscopic cystectomy for ovarian endometriosis

2009 ◽  
Vol 24 (6) ◽  
pp. 1402-1406 ◽  
Author(s):  
S. Matsuzaki ◽  
C. Houlle ◽  
C. Darcha ◽  
J.-L. Pouly ◽  
G. Mage ◽  
...  
Keyword(s):  
Risk Factors ◽  
Ovarian Tissue ◽  
Ovarian Endometriosis ◽  
Normal Ovarian Tissue ◽  
Laparoscopic Cystectomy

scholarly journals Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Yanyan Cao ◽  
Lingzhi Meng ◽  
Yudong Zhang ◽  
Jiancheng Jiao ◽  
Weicong Pu ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Therapeutic Strategy ◽  
Compound Heterozygous ◽  
Genetic Characteristics ◽  
Whole Exome ◽  
Heterozygous Variant ◽  
Glycine Metabolism ◽  
Metabolic Investigation ◽  
Nonketotic Hyperglycinemia ◽  
Optimal Therapeutic Strategy

Nonketotic hyperglycinemia (NKH) is a lethal autosomal recessive disease resulting from alterations in glycine metabolism, commonly caused by mutations in glycine decarboxylase (GLDC). The symptoms of NKH usually manifest in the neonatal period, and can be categorized into severe NKH and attenuated NKH based on the clinical outcome. To date, only a few NKH cases have been reported in China. We here report a case of a neonate with severe NKH carrying a novel compound heterozygous variant in GLDC. The patient was a 68-h-old girl who had progressive lethargy, no crying, and poor sucking ability from birth, and was therefore transferred to our department. On admission, the patient was supported by intubation and ventilation and presented with profound coma. Metabolic investigation indicated a markedly increased glycine concentration both in the plasma and cerebrospinal fluid (CSF). Symptomatic treatments were administered, but the patient's condition did not improve substantially. Whole-exome sequencing identified compound heterozygous mutations (c.1261G&gt;C, p.G421R and c.450 C&gt;G, p.N150K) in GLDC, which were inherited from the mother and the father, respectively. The patient was hospitalized for 8 days in our department and died 2 days after discharge. We further summarize the clinical features, genetic characteristics, administered treatment, and prognosis of previously reported Chinese NKH patients for context. Our results highlight that due to the non-specific clinical phenotypes of NKH and difficulty in obtaining CSF samples, genetic testing is a crucial tool, not only for a diagnosis but also for predicting the clinical outcome and can potentially help to determine the optimal therapeutic strategy.

scholarly journals Evaluation of protective effects of mirtazapine and mesna on cisplatin-induced ovarian damage in rats

2021 ◽  
Vol 38 (2) ◽  
pp. 72-81
Author(s):  
Önder SAKIN ◽  
Ali Doğukan ANGIN ◽  
Muhammet Ali ORUÇ ◽  
Emine Eda AKALIN ◽  
Muzaffer Seyhan CIKMAN ◽  
...  
Keyword(s):  
Single Dose ◽  
Ovarian Tissue ◽  
Albino Rats ◽  
Protective Effects ◽  
Preantral Follicle ◽  
Damage Score ◽  
The Third ◽  
Normal Ovarian Tissue ◽  
Ovarian Damage ◽  
Wistar Albino Rats

To evaluate whether mirtazapine and mesna have protective effects on cisplatin-induced ovarian injury. A total of 32 female Wistar Albino rats were divided into 4 groups (8 rats per group) and included in the study. No medication was administered to the first group; only intervention was that their ovaries were removed and anti-mullerian hormone (AMH) values were measured. The second group received intramuscular cisplatin at a single dose of 7.5 mg/kg. The third group received a single dose of 200 mg/kg mesna intraperitoneally, and 30 minutes later, a single dose of 7.5 mg/kg intramuscular cisplatin was administered. The fourth group received oral 30 mg/kg mirtazapine, and 60 minutes later, a single dose of 7.5 mg/kg intramuscular cisplatin was administered. Oral 30 mg/kg mirtazapine was continued for ten days. Ovaries and AMH values of all groups were evaluated at the end of tenth day. In the cisplatin group when compared to normal ovarian tissue total histopathological damage score increased (p=0.037), preantral follicle count decreased (p=0.003) and AMH levels decreased (p<0.001). In the cisplatin + mesna group total ovarian damage score was also increased (p=0.005), preantral and antral follicles decreased (p<0.001 and p=0.001, respectively), and AMH levels decreased (p<0.001). In the cisplatin + mirtazapine group, total ovarian damage score (p<0.001), preantral follicle count (p=0.002) and AMH values were decreased (p<0.001). It was concluded that mesna and mirtazapine were not effective in preventing ovarian damage due to cisplatin.

A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION

2018 ◽  
Vol 24 (10) ◽  
pp. 889-893 ◽  
Author(s):  
Simo Liu ◽  
Jing Ke ◽  
Baoyu Zhang ◽  
Caiguo Yu ◽  
Yingmei Feng ◽  
...  
Keyword(s):  
Thyroid Dysfunction ◽  
Gitelman Syndrome ◽  
Compound Heterozygous ◽  
Slc12a3 Gene ◽  
Heterozygous Variant
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