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Cleidocranial dysplasia with a rare mutation:Study of a family with review of literature

Open Journal of Stomatology 2013年第8期3卷 402-410页

作者： Ahmet Ercan Sekerci Burhan Balta oguzhan bahadir Yildiray Sisman Munis Dundar Turgut Tursem Tokmak Stefan Mundlos Department of Oral Diagnosis and Radiology Faculty of DentistryErciyes UniversityKayseriTurkey Department of Medical Genetics Faculty of MedicineErciyes UniversityKayseriTurkey Department of Radiodiagnostics Faculty of MedicineErciyes UniversityKayseriTurkey Institute of Medical Genetics Charité-UniversitaetsmedizinBerlinGermany

Introduction: The present study was aimed at advancing the understanding of the pathogenesis of cleidocranial dysplasia (CCD) by presenting a case study based on history, physical examination, typical radiological features, and molecular analysis and a review of the literature. Methods: This study began with a 23-year-old boy (proband) who was referred to the department of oral and maxillofacial radiology with chief complaint of the upper-left first molar tooth and routine dental examination. While evaluating the panoramic radiograph, the patient had approximately 57 teeth in his both of the jaws. Clinical, radiographical and molecular features of the proband, two siblings and their parents were examined and then, DNA analysis was performed. Results: Overall, we present 3 CCD patients with a mutation in the VWRPY motif. The deletion of c. 1754_1757 delTTTG (NM_001024630.2) is determined and it leads to a frame shift mutation and stop codon, p. V585Gfs56X. Conclusions: The present study emphasized the importance of further clinical and molecular investigation when even a single case of CCD is identified within a family. This is the first study performed in Turkey about a family with a mutation in the VWRPY motif. Genotype-phenotype association studies in individuals with CCD are necessary to provide important insights into molecular mechanisms associated with this disease.

关键词： Cleidocranial Dysplasia Mutation RUNX2 Gene Impacted Supernumeraries

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Gene expression and histopathological evaluation of thiamine pyrophosphate on optic neuropathy induced with ethambutol in rats

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International Journal of Ophthalmology(English edition) 2016年第10期9卷 1390-1395页

作者： Emine Cinici Nihal Cetin bahadir Suleyman Durdu Altuner oguzhan Yarali Hilal Balta Ilknur Calik Levent Tumkaya Halis Suleyman Department of Ophthalmology Erzurum Region Education and Research Hospital Department of Pharmacology Faculty of MedicineErzincan University Department of Medical Genetics Goztepe Training and Research HospitalIstanbul Medeniyet University Department of Pathology Erzurum Region Education and Research Hospital Department of Histology and Embryology Faculty of MedicineRecep Tayyip Erdogan University

AIM： To compare the effects of thiamine pyrophosphate（TPP） and thiamine（TM） in oxidative optic neuropathy in rats induced by ***： The animals were divided into four groups：a control group（CG）,an ethambutol control（ETC） group,TM plus ethambutol group（TMG）,and TPP plus ethambutol group（TPPG）.One hour after intraperitoneal administration of TM 20 mg/kg to the TMG group and TPP 20 mg/kg to TPPG group,30 mg/kg ethambutol was given via gavage to all the groups but the *** procedure was repeated once daily for 90 *** that period,all rats were exposed to high levels of anaesthesia in order to investigate the gene expression of malondialdehyde and glutathione in removed optic nerve tissue and histopathologically to examine these tissues. RESULTS： Malondialdehyde gene expression significantly increased,whereas glutathione gene expression significantly decreased in the ETC group compared to the *** could not prevent the increase of malondialdehyde gene expression and the decrease of glutathione,while TPP significantly could ***,significant vacuolization in the opticnerve,single-cell necrosis in the glial cells,and a decrease in oligodendrocytes were observed in the ETC *** in the optic nerve,a decrease in oligodendrocytes and single-cell necrosis were found in the TMG group,while no pathological finding was observed in the TPPG group except for mild ***： TPP protects the optic nerve against the ethambutol-induced toxicity but TM does *** can be beneficial in prophilaxis of optic neuropathy in ethambutol therapy.

关键词： ethambutol gene expression optic neuropathy rat thiamine pyrophosphate

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Validation of the PAGE-B score to predict hepatocellular carcinoma risk in caucasian chronic hepatitis B patients on treatment

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World Journal of Gastroenterology 2022年第6期28卷 665-674页

作者： Pinar Gokcen Fatih Guzelbulut Gupse Adali Ayca Gokce Degirmenci Salturk oguzhan Ozturk Ozgur bahadir Emine Kanatsiz Mevlut Kiyak Kamil Ozdil Hamdi Levent Doganay Department of Gastroenterology Health Sciences UniversityUmraniye Teaching and Research HospitalIstanbul 34764Turkey Department of Gastroenterology Health Sciences UniversityHaydarpasa Numune Teaching and Research HospitalIstanbul 34668Turkey

BACKGROUND Several risk scores have been developed to predict hepatocellular carcinoma(HCC)risk in chronic hepatitis B(CHB)*** majority of risk scores are based on pretreatment variables that are no longer considered risk factors for HCC development due to the suppression of hepatitis B virus replication early in the course of potent antiviral treatment in most *** PAGE-B score,which is based on platelet levels,age and sex,has been shown to accurately predict HCC risk in CHB patients on antiviral treatment in various *** We aimed to evaluate the PAGE-B score in predicting HCC risk in Turkish CHB patients on antiviral *** In this study,we recruited 742 CHB patients who had been treated with tenofovir disoproxil fumarate or entecavir for≥1 *** groups were determined according to the PAGE-B scores as follows:≤9,low;10-17,moderate and≥18,*** cumulative HCC incidences in each risk group were computed using Kaplan-Meier analysis and were compared using the log-rank *** accuracy of the PAGE-B score in predicting HCC risk was evaluated using a timedependent area under the receiver operating characteristic(AUROC)curve at all study time *** and multivariate logistic regression analyses were used to assess the risk factors for HCC *** The mean follow-up time was 54.7±1.2 *** was diagnosed in 26 patients(3.5%).The cumulative HCC incidences at 1,3,5 and 10 years were 0%,0%,0%and 0.4%in the PAGE-B low-risk group;0%,1.2%,1.5%and 2.1%in the PAGE-B moderate-risk group;and 5%,11.7%,12.5%,and 15%in the PAGE-B high-risk group,respectively(log-rank P<0.001).The AUROCs of the PAGE-B score in the prediction of HCC development at 1,3,5 and 10 years were 0.977,0.903,0.903 and 0.865,*** the multivariable analysis,older age,male sex,lower platelet levels,presence of cirrhosis,and absence of alanine aminotransferase normalization at month 6 were associated with HCC development(all P<0.05).C

关键词： Chronic hepatitis B Hepatocellular carcinoma PAGE-B score Surveillance

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