Gastrointestinal stromal tümörlerde nükleer morfometrik analiz: Ön çalışma

Amaç: Gastrointestinal stromal tümörler, mezenkimal neoplazmlar içinde yer alan özel bir tümör grubudur. Bu çalışmada, gastrointestinal stromal tümörlerin histomorfolojik ve immünhistokimyasal özellikleri, nükleer morfometrik analiz sonuçları ile karşılaştırılmıştır. Yöntem: Dokuzu benign ve 13’ü malign davranış gösteren 22 gastrointestinal stromal tümörün hematoksilen- eosin boyalı kesitlerinde, bilgisayar destekli görüntü analiz programı kullanılarak, ortalama nükleer alan, ortalama nükleer yuvarlaklık faktörü, ortalama nükleer elipslik indeksi, ortalama nükleer uzunluk ve ortalama nükleer perimetre ölçülmüştür. Morfometrik analiz sonuçları, tümörlerin davranış, boyut, mitoz sayısı, nekroz varlığı, immünhistokimyasal olarak p53 ve proliferating cell nükleer antijen ekspresyonları ile karşılaştırılmıştır. Bulgular: Tümör nekrozu ile ortalama nükleer yuvarlaklık faktörü, ortalama nükleer elipslik indeksi, ortalama nükleer uzunluk ve ortalama nükleer perimetre arasında arasında anlamlı ilişki saptanmıştır (p0.05). Sonuç: Bu ön çalışmada, gastrointestinal stromal tümörlerin histomorfolojik verileri ile nükleer morfometrik ölçüm sonuçları arasında saptanan anlamlı ilişki, morfometrik analizin değerini ortaya koymaktadır. Gastrointestinal stromal tümörlerde bu yöntem ile elde edilen sonuçları n, daha geniş olgu serilerinde araştırılması yerinde olacaktır.Background/aims: Gastrointestinal stromal tumors are considered a specialized group of mesenchymal neoplasms. In this study, the histomorphologic and immunohistochemical features of gastrointestinal stromal tumors are compared with nuclear morphometric results. Methods: Morphometric nuclear parameters such as mean area, mean roundness factor, mean form ellipse, mean length and mean perimeter were evaluated in hematoxylin and eosin stained slides of 22 gastrointestinal stromal tumors (9 benign and 13 malignant) by using a computerassisted image analysis system. Morphometric results were compared with tumor behavior and tumor size, the presence of necrosis, mitotic index, and immunohistochemical expressions of p53 and proliferating cell nuclear antigen. Results: We found that tumor necrosis was correlated with mean nuclear roundness factor, mean nuclear form ellipse, mean nuclear length and mean nuclear perimeter (p0.05). Conclusions: In this preliminary study, the relative concordance of the morphometric results and general histomorphologic data exhibited the importance of nuclear morphometric analysis in gastrointestinal stromal tumors. Studies including larger series of cases investigating detailed nuclear morphometric analysis of gastrointestinal stromal tumors are needed

Ailesel Basınca Duyarlılık Nöropatisi Hastalığının Tuzak Nöropatili Hastalarda Elektrofizyolojik Tanı Sıklığı

"Objective: Hereditary neuropathy with liability to pressure palsy (HNPP) needs to be differentiated from entrapment neuropathies due to differences in the treatment management. Materials and Methods: Among 5075 patients with entrapment neuropathy, we retrospectively evaluated the neurophysiologic results of 20 patients with three or more entrapments. Results: Ten patients were diagnosed as having HNPP according to their genetic or nerve biopsy results; eight (80%) had bilateral Carpal tunnel syndrome, nine (90%) had bilateral ulnar entrapment neuropathy, eight (80%) had bilateral median and ulnar entrapment together; and three (30%) had one-sided peroneal neuropathy. Conclusion: Our data suggest that analyzing the neurophysiologic studies and keeping HNPP in mind are essential to characterize underdiagnosed patients with HNPP referred for entrapment neuropathy."Scopu

CIDP and MMN frequency in tertiary care centers in Turkey

Bu çalışma, 16-21 Eylül 2017 tarihlerinde Kyoto[Japonya]’da düzenlenen 23. World Congress of Neurology (WCN) Kongresi‘nde bildiri olarak sunulmuştur.World Federat Neuro

Early Diagnosis of Distal Peripheral Polyneuropathy Due to Glucose Metabolism Disorders via Intraepidermal Nerve Fiber Analysis

OBJECTIVE: Polyneuropathy is the most frequent complication of diabetes mellitus (DM), which is a common disorder worldwide. Early diagnosis of this complication is critical for treatment planning. Recently, intra-epidermal nerve fiber (IENF) analysis has been used for the early diagnosis of diabetic neuropathy and was reported to be superior to both conventional fascicular nerve biopsy and other diagnostic tests. The present study aimed to determine the effect of early glucose metabolism disorders on the peripheral nerves using IENF analysis. METHODS: : This prospective study compared IENF nerve fiber density in 10 patients with early-stage DM and 12 patients with impaired glucose tolerance (IGT) to that of healthy controls in order to investigate fiber loss in the asymptomatic stage. RESULTS: Mean age of the DM and IGT groups was 53.4 ± 10.9 years and 50.8 ± 10.6 years, respectively. Neither the IGT nor DM patients had paresthesia. Neurological examination results of the patients were all in the normal range. Mean fiber density was 6.4 ± 2.7 mm-1 in the DM group, 7.5 ± 3.2 mm-1 in the IGT group, and 13.7 ± 2.7 mm-1 in the control group (p< 0.0001). Paired analysis of the groups showed a significant difference between the 2 patient groups and the control group. There was a statistically significant difference in mean nerve fiber density between the DM and control groups (p< 0.0001, Mann-Whitney U test), and between the IGT and control groups (p< 0.0001, Mann-Whitney U test); however, there wasn’t a significant difference between the DM and IGT groups (p= 0.5, Mann-Whitney U test). CONCLUSION: The results show that IENF density in the IGT and DM groups decreased in the asymptomatic stage of DM. This means that polyneuropathy can begin in the prediabetic period in patients with glucose metabolism disorders. This critical information highlighs the importance of the early diagnosis and treatment of glucose metabolism disorders in preventing neurological complication

Comprehensive evaluation of velopharyngeal function in myasthenia gravis patients

Purpose Hypernasality, which is a symptom of dysarthria, may be seen in patients with Myasthenia Gravis with bulbar symptoms. However, there is not enough evidence to show that these patients may have velopharyngeal dysfunction. This study investigates the features of velopharyngeal function in myasthenia gravis patients using objective and subjective measurement tools. Methods Ten adult myasthenia gravis patients with bulbar symptoms and ten adult myasthenia gravis patients without bulbar symptoms were recruited for this study. Ten healthy subjects were also included as the control group. The nasalance scores of the participants were determined using a nasometer. The degree and pattern of velopharyngeal closure were scored using flexible nasoendoscopy during speech, blowing, dry swallowing, and food swallowing. Perceptual hypernasality was assessed. Results Velopharyngeal dysfunction was detected in 50% of the myasthenia gravis patients with bulbar symptoms. Velopharyngeal dysfunction was not seen in myasthenia gravis patients without bulbar symptoms. The degree of velopharyngeal closure in patients with bulbar symptoms differed depending on the tasks being performed. No significant difference in velopharyngeal closure patterns was observed between the groups (p < 0.05). Conclusion Myasthenia gravis patients with bulbar involvement may have velopharyngeal dysfunction. It is important to conduct a comprehensive evaluation to assess all aspects of the velopharyngeal function

Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective

This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the differential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns