Pub Date : 2020-01-01DOI: 10.5222/forbes.2020.18291
G. Diniz
Evaluation of muscle and nerve biopsy samples is an important diagnostic tool in patients with neuromuscular disease. It can be thought that the great developments in the field of medicine in recent years have reduced the importance of these investigations. However, histopathological examination narrows the genetic diseases panel to be applied in differential diagnosis by reducing possible diagnostic options, especially in the first approach. It also provides information about the severity of the disease that cannot be distinguished by genetic examination in the most frequently seen X-linked dystrophinopathies. It distinguishes inflammatory, metabolic, and mitochondrial diseases that can be confused with hereditary myopathies clinically. In some cases, the differential diagnosis approach is only made with repeated biopsy samples. As a result of the change in the concept of inflammatory neuropathy in nerve biopsies, evaluation of nerve biopsy is very important in the diagnosis of inflammatory neuropathy and in addition to grading myelin loss or axonal degeneration. In this review, it is aimed to emphasize with case examples the conditions where muscle and nerve biopsies are very important.
{"title":"The Importance of Muscle and Nerve Biopsies in the Diagnosis of Neuromuscular Diseases","authors":"G. Diniz","doi":"10.5222/forbes.2020.18291","DOIUrl":"https://doi.org/10.5222/forbes.2020.18291","url":null,"abstract":"Evaluation of muscle and nerve biopsy samples is an important diagnostic tool in patients with neuromuscular disease. It can be thought that the great developments in the field of medicine in recent years have reduced the importance of these investigations. However, histopathological examination narrows the genetic diseases panel to be applied in differential diagnosis by reducing possible diagnostic options, especially in the first approach. It also provides information about the severity of the disease that cannot be distinguished by genetic examination in the most frequently seen X-linked dystrophinopathies. It distinguishes inflammatory, metabolic, and mitochondrial diseases that can be confused with hereditary myopathies clinically. In some cases, the differential diagnosis approach is only made with repeated biopsy samples. As a result of the change in the concept of inflammatory neuropathy in nerve biopsies, evaluation of nerve biopsy is very important in the diagnosis of inflammatory neuropathy and in addition to grading myelin loss or axonal degeneration. In this review, it is aimed to emphasize with case examples the conditions where muscle and nerve biopsies are very important.","PeriodicalId":48269,"journal":{"name":"FORBES","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70832570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.5222/forbes.2020.30602
Meltem Koyuncu Arslan, M. Akar, H. Pala, C. Taner, M. Oncel
INTRODUCTION: Central nervous system (CNS) anomalies are the second most common congenital malformations detected during antenatal period. Rates of prenatal diagnosis are aroung 96% in anencephaly, but drops down to approximately 14 % in migration anomalies.We aimed to determine the frequency and features of CNS anomalies evaluated in the perinatology council of our hospital where high-risk pregnancies were discussed and also to emphasize the importance of antenatal diagnosis. METHODS: Pregnant women, with a CNS anomaly detected in their fetus, who were evaluated between January 2019-December 2019 in the perinatology council of Tepecik Training and Research Hospital were included in the study. Retrospectively, the records of the cases were examined, prenatal, and maternal risk factors at the time of council session, the council decision and the results were recorded. Statistical analyzes were done using SPSS 20.0 program. RESULTS: Data of 1272 pregnant women were evaluated in the study, and 261 cases (20.5%) with CNS anomalies were detected. A total of 129 pregnant women were excluded from the study because follow-up of these patients were not realized in our center or they didn’t give birth yet.. Totally, 132 pregnant women were included in the study. The mean maternal age was 26.99±6.50 (14-42) years, the mean gestational age was 22.63±7.08 (10.4-38.6) weeks. Most common CNS anomalies detected were neural tube defects (n=54; 40%), hydrocephalus/ventriculomegaly (n=36; 27%), migration defects (n=21; 15%) and cerebellar malformations (n=9; 6%). Termination of pregnancy was decided for 29.8% (n=78) of pregnant women, but realized only for 62 pregnancies. Among pregnancies which were decided to be continued due to the fact that gestational week was 22 weeks or more (n=51), had fetuses with neural tube defects (n=25; 50%) and hydrocephalus/ventriculomegaly (n=36; 27%) with poor prognosis. DISCUSSION AND CONCLUSION: As the anomalies with high morbidity and mortality were referred to our hospital after the 22nd gestational week, termination option could not be offered to these pregnancies. High-risk pregnancies should be directed to perinatology centers in the early period so that this option can be presented to the family, appropriate follow-up and treatment of life-compatible ones.
{"title":"Evaluation of Fetal Central Nervous System Anomalies; Perinatology Council Data of a Reference Center","authors":"Meltem Koyuncu Arslan, M. Akar, H. Pala, C. Taner, M. Oncel","doi":"10.5222/forbes.2020.30602","DOIUrl":"https://doi.org/10.5222/forbes.2020.30602","url":null,"abstract":"INTRODUCTION: Central nervous system (CNS) anomalies are the second most common congenital malformations detected during antenatal period. Rates of prenatal diagnosis are aroung 96% in anencephaly, but drops down to approximately 14 % in migration anomalies.We aimed to determine the frequency and features of CNS anomalies evaluated in the perinatology council of our hospital where high-risk pregnancies were discussed and also to emphasize the importance of antenatal diagnosis. METHODS: Pregnant women, with a CNS anomaly detected in their fetus, who were evaluated between January 2019-December 2019 in the perinatology council of Tepecik Training and Research Hospital were included in the study. Retrospectively, the records of the cases were examined, prenatal, and maternal risk factors at the time of council session, the council decision and the results were recorded. Statistical analyzes were done using SPSS 20.0 program. RESULTS: Data of 1272 pregnant women were evaluated in the study, and 261 cases (20.5%) with CNS anomalies were detected. A total of 129 pregnant women were excluded from the study because follow-up of these patients were not realized in our center or they didn’t give birth yet.. Totally, 132 pregnant women were included in the study. The mean maternal age was 26.99±6.50 (14-42) years, the mean gestational age was 22.63±7.08 (10.4-38.6) weeks. Most common CNS anomalies detected were neural tube defects (n=54; 40%), hydrocephalus/ventriculomegaly (n=36; 27%), migration defects (n=21; 15%) and cerebellar malformations (n=9; 6%). Termination of pregnancy was decided for 29.8% (n=78) of pregnant women, but realized only for 62 pregnancies. Among pregnancies which were decided to be continued due to the fact that gestational week was 22 weeks or more (n=51), had fetuses with neural tube defects (n=25; 50%) and hydrocephalus/ventriculomegaly (n=36; 27%) with poor prognosis. DISCUSSION AND CONCLUSION: As the anomalies with high morbidity and mortality were referred to our hospital after the 22nd gestational week, termination option could not be offered to these pregnancies. High-risk pregnancies should be directed to perinatology centers in the early period so that this option can be presented to the family, appropriate follow-up and treatment of life-compatible ones.","PeriodicalId":48269,"journal":{"name":"FORBES","volume":"263 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70832616","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.5222/forbes.2020.09797
M. Subak, N. Aksel, Y. Öztürk
{"title":"Incıdence Of Anemıa In Cases Wıth Lung Cancer At The Tıme Of Dıagnosıs And Relatıon Between Cancer Types","authors":"M. Subak, N. Aksel, Y. Öztürk","doi":"10.5222/forbes.2020.09797","DOIUrl":"https://doi.org/10.5222/forbes.2020.09797","url":null,"abstract":"","PeriodicalId":48269,"journal":{"name":"FORBES","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70832560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.5222/forbes.2020.24008
Ahmet Hikmet Çilengir, F. C. Sarıoğlu, N. Çilengir, B. Dirim Mete
Pituitary stalk interruption syndrome is a rare disease characterized by a deficiency of adenohypophyseal hormones. Clinical presentation usually occurs in childhood or in the second decade of life. The severity of hormonal deficiency is variable. It may be isolated or be accompanied by extra–pituitary anomalies. Magnetic resonance imaging findings are considered as an absent pituitary stalk, absent or smaller adenohypophysis, absent or ectopic neurohypophysis. Contrast-enhanced imaging is essential in evaluating the presence and morphology of the pituitary stalk. In the presence of clinical findings, evaluation of the hypothalamic–pituitary region using magnetic resonance imaging is necessary for diagnosis. Early diagnosed cases can maintain their normal lives with hormone replacement. In this article, we aimed to present pituitary stalk interruption syndrome and its magnetic resonance imaging findings with a case presentation
{"title":"A Rare Cause of Pituitary Deficiency: Pituitary Stalk Interruption Syndrome and Magnetic Resonance Imaging Findings","authors":"Ahmet Hikmet Çilengir, F. C. Sarıoğlu, N. Çilengir, B. Dirim Mete","doi":"10.5222/forbes.2020.24008","DOIUrl":"https://doi.org/10.5222/forbes.2020.24008","url":null,"abstract":"Pituitary stalk interruption syndrome is a rare disease characterized by a deficiency of adenohypophyseal hormones. Clinical presentation usually occurs in childhood or in the second decade of life. The severity of hormonal deficiency is variable. It may be isolated or be accompanied by extra–pituitary anomalies. Magnetic resonance imaging findings are considered as an absent pituitary stalk, absent or smaller adenohypophysis, absent or ectopic neurohypophysis. Contrast-enhanced imaging is essential in evaluating the presence and morphology of the pituitary stalk. In the presence of clinical findings, evaluation of the hypothalamic–pituitary region using magnetic resonance imaging is necessary for diagnosis. Early diagnosed cases can maintain their normal lives with hormone replacement. In this article, we aimed to present pituitary stalk interruption syndrome and its magnetic resonance imaging findings with a case presentation","PeriodicalId":48269,"journal":{"name":"FORBES","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70832607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.5222/forbes.2020.43153
S. Sayhan, G. Diniz, I. Bingöl, D. Kahraman, B. Calik
INTRODUCTION: The ETS-related gene (ERG) encodes a member of the erythroblast transformation-specific (ETS) transcription factor family that has been implicated in both tumor invasion and neovascularization. In this retrospective study, we have aimed to investigate the clinical significance of ERG tissue expressions in gastric cancer. METHODS: We examined the expression of ERG protein by immunohistochemical staining in tissue specimens harvested from 172 primary gastric cancer cases. RESULTS: ERG was expressed in normal vascular endothelium. ERG staining was defined as positive in 9.9 % (17 /172) of gastric cancer cases. According to clinicopathological characteristics, statistically significant differences were not observed between ERG expression and tumor invasion, lymph node and distant metastases, increased tumor stage, histological lymphatic and neural invasion. There were no significant differences in age, gender, or histopathological grading as for ERG expression. DISCUSSION AND CONCLUSION: ERT expression in gastric cancers is not correlated with histological prognostic indicators.
{"title":"Tissue Expression of ETS-Related Gene in Gastric Carcinomas","authors":"S. Sayhan, G. Diniz, I. Bingöl, D. Kahraman, B. Calik","doi":"10.5222/forbes.2020.43153","DOIUrl":"https://doi.org/10.5222/forbes.2020.43153","url":null,"abstract":"INTRODUCTION: The ETS-related gene (ERG) encodes a member of the erythroblast transformation-specific (ETS) transcription factor family that has been implicated in both tumor invasion and neovascularization. In this retrospective study, we have aimed to investigate the clinical significance of ERG tissue expressions in gastric cancer. METHODS: We examined the expression of ERG protein by immunohistochemical staining in tissue specimens harvested from 172 primary gastric cancer cases. RESULTS: ERG was expressed in normal vascular endothelium. ERG staining was defined as positive in 9.9 % (17 /172) of gastric cancer cases. According to clinicopathological characteristics, statistically significant differences were not observed between ERG expression and tumor invasion, lymph node and distant metastases, increased tumor stage, histological lymphatic and neural invasion. There were no significant differences in age, gender, or histopathological grading as for ERG expression. DISCUSSION AND CONCLUSION: ERT expression in gastric cancers is not correlated with histological prognostic indicators.","PeriodicalId":48269,"journal":{"name":"FORBES","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70832667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-01DOI: 10.5222/forbes.2020.87587
Burcu Demirdöven, Erkan Güvenç, M. Küçük, M. Uyar
{"title":"Computed Tomographic Scanning Evaluation Of The Patients With Head Trauma","authors":"Burcu Demirdöven, Erkan Güvenç, M. Küçük, M. Uyar","doi":"10.5222/forbes.2020.87587","DOIUrl":"https://doi.org/10.5222/forbes.2020.87587","url":null,"abstract":"","PeriodicalId":48269,"journal":{"name":"FORBES","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70833396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A Memorial to The Vainglorious Death by Fire of My Comrades on The Streets of Middle America During The Outbreak","authors":"J. Simons","doi":"10.5195/FORBES5.2014.55","DOIUrl":"https://doi.org/10.5195/FORBES5.2014.55","url":null,"abstract":"","PeriodicalId":48269,"journal":{"name":"FORBES","volume":"5 1","pages":"44-45"},"PeriodicalIF":0.0,"publicationDate":"2014-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70733922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"An Era of Volatile Transition: Uncovering The Hindu-Muslim Tension in Mumbai, India","authors":"Rohan Lambore","doi":"10.5195/FORBES5.2014.60","DOIUrl":"https://doi.org/10.5195/FORBES5.2014.60","url":null,"abstract":"","PeriodicalId":48269,"journal":{"name":"FORBES","volume":"5 1","pages":"80-104"},"PeriodicalIF":0.0,"publicationDate":"2014-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70734146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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