Extramedullary plaslmacytoma of nasopharynx: a case report

Ekstramedüller plazmasitom, periferal B lenfositlerden köken alan nadir bir tümördür. Plazma hücre tümörlerinin yaklaşık %3-4'ünü oluşturur. Sıklıkla 5. ve 6. dekada ve daha sıklıkla erkeklerde izlenir. Genellikle baş ve boyun bölgesinde (paranazal sinüs ve nazal kavitenin submukozal dokusunda) yer almasına rağmen tüm baş boyun tümörlerinin ancak %1' inden azını oluşturur. Yavaş büyüyen tümörler olduğu için erken dönemde semptom vermeyebilir. Klinik bulgular tümörün lokalizasyona göre kitle etkisine bağlıdır. Nazofarenks yerleşimli olanlarda nazal obstruksiyon, burun kanaması, kulaklarda dolgunluk hissi ve horlama en sık izlenen bulgulardır. Plazmasitomanın tanısı kitleden alınan biopsinin histolojik incelemesiyle konur. Bu makalede burun tıkanıklığı ile başvuran 67 yaşında erkek hastada nazofarenks tutulumu ile seyreden ekstramedüller plazmositom olgusu bildirilmiştir.Extramedullary plasmacytoma is classified as a peripheral B-cell neoplasm and this tumor uncommon. This tumor comprises 3 to 4% of all plasma cell neoplasms. They usually occur in patients between 5. and 6. decades and more common men. Ususally they arise head and neck area ( paranasal sinus and submucosal nasal cavity ) but less %1 of all head and neck tumors. Their symptoms couldn't seen early period because of growing slowly. Clinical manifestations of tumors are associated with localization. The most clinical manifastation of nasopharyngeeal plasmosytoma is nasal obstruction, epistaxis, aural fullness and snoring. The diagnosis of plasmacytoma is based on and confirmed with histology and immunohistochemistry of biopsy from mass. In this present case, an extramedullar plasmositoma involving the nasopharynx was reported in a 67 years old man presenting with nasal obstruction

Magnetic resonance imaging of the sacroiliac joints in ankylosing spondylitis before and after therapy with anti-tumor necrosis factor alpha

AMAÇ: Çalışmanın amacı, dirençli AS'li hastalarda, anti-TNF-alfa ilaçların etkinliğini ve güvenirliğini yanısıra, manyetik rezonans (MR) görüntüleme ile tedavi öncesi ve sonrası sakroiliak eklem değişiklerini tespit etmektir. GEREÇ ve YÖNTEM: Modifiye New York tanı kriterlerine göre AS tanısı almış, 27 hasta çalışmaya dahil edildi. Sakroiilitis bulguları, anti-TNF-alfa tedavi öncesi ve sonrası, Gd-MR ile tespit edildi. Sekiz hastaya, 4 haftada bir İnfliximab 4mg/kg i.v. infüzyon verildi. Diğer 19 hastaya ise Etanercept 2x25mg/hafta s.c. verildi. Değerlendirilen klinik ve laboratuvar parametreler; BASDAİ, BASFİ, ağrı (VAS skoru), Schöber testi, göğüs ekspansiyonu, C-reaktif protein (CRP), eritrosit sedimentasyon hızı (ESH). BULGULAR: Hastaların çoğu, anti-TNF-alfa tedavilerine iyi yanıt verdi. 24.haftanın sonunda, takip edilen tüm parametrelerde iyileşme gözlendi. MR görüntüleme çalışmalarında, anti-TNF-alfa tedavi sonrası sadece 3 hastanın sakroiliak eklem inflamasyonunda gerileme gözlendi. SONUÇ: Aktif AS'li hastalarda, 24.hafta sonunda anti-TNF-alfa ilaçları güvenilir ve etkin bulundu. BASDAİ, BASFİ, ağrı skorlarında belirgin düşüş gözlendi. Fakat, sakroiliak eklemin akut inflamatuvar bulgularında, MR görüntüleme ile herhangi bir gerileme tespit edilmedi.OBJECTIVE: The goal of this study is to assess the changes in the sacroiliac joints (Sİ) by magnetic resonance imaging (MRI) in a 24-week follow-up period and to determine the efficacy and safety of anti-TNF-α therapies for refractory AS. MATERIAL and METHODS: Twenty-seven patients who met the modified New York criteria for AS were enrolled in this study. Activity of sacroiliitis was determined by Gd-MRI scan before and after anti-TNF-α treatment. Eight patients received infliximab at a dose of 4 mg/kg by intravenous infusion over 2 hours at every 4 week. Other 19 patients were treated with 25mg subcutaneous etanercept twice weekly The total observational period was 24 weeks. The clinical and laboratory variables included: Bath AS Disease Activity Index (BASDAI), Bath AS Functional Index (BASFI), pain on a visual analog scale, Schober's index, chest expansion, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR). RESULTS: Most patients responded well to treatment of anti-TNF-α antagonists. At 24 weeks, there was an improvement in all of the following measures. Imaging studies showed decreased inflammation of the SI joints after 24 weeks of treatment with anti-TNF-α therapies in only 3 patients. CONCLUSION: The anti-TNF-α therapies was safe and effective in treating patients with active AS during 24- week study period. The BASDAI, BASFI, VAS of pain were decreased well. But we could not determine any regression of acute inflammatory changes of the SI joints as depicted by MRI

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease