Akut Lösemilerde CMV Virüs Yükü Sürveyansının Yeri ve Önemi

Cytomegalovirus (CMV) reactivation occurs in 15 -80% of recipients of allogenic stem cell transplants and is associated with significant morbidity and mortality. Therefore well-defined strategies have been developed for prophylaxis, screening and pre-emptive treatment. In recent years, there has been a concern for rising frequency of CMV disease related to the advances in leukemia treatment, increased use of more potent chemotherapy protocols and longer patient survival. A surveillance study has been going on in hospitalized acute leukemia patients at Hacettepe University Internal Medicine Wards since 2005. Twice weekly CMV viral load surveillance is performed in acute leukemia patients receiving induction or consolidation therapy. We evaulated 134 patients who had at least 3 CMV PCR results during induction episode retrospectively. The cut-off value for a positive test result was >1000 copies/ml . On the average, 9.84±7.29 (min 2-max. 39) CMV PCR tests were performed for each episode in all patients. This was 7,64±4,57 (min.3-max.28) in induction, 7,47±5,82 (min.2-max.26) in consolidation groups. CMV infection was detected in 9 of 134 (%6,7) patients. 4 patients in induction group and 5 in consolidation group (p>0.05). All patients had CMV DNAemia only. Pre-emptive ganciclovir treatment was administered to 3 of 4 patients in the induction group and 1 of 5 patients who received consolidation chemotherapy. 2 of 96 patients (%2,0) in AML sub-group, 7 of 38 patients (%18,4) in ALL sub-group had CMV infection (p1000/ml kopya değeri pozitif kabul edildi. Tüm hasta popülasyonunda epizod başına her hasta için ortalama 9.84±7.29 (min 2-maks. 39) CMV PCR çalışıldığı izlendi. Bu rakam indüksiyon grubunda 7,64±4,57 (min.3-mak.28), konsolidasyon grubunda ise 7,47±5,82 (min.2-mak.26) idi. 134 hastanın 9?unda (%6,7) CMV infeksiyonu gözlemlendi. CMV infeksiyonu olan 9 hastanın 4?ü indüksiyon kemoterapi döneminde, 5?i konsolidasyon dönemindeydi (p>0.05). Hastaların tamamı CMV DNAemi?si şeklinde seyretti. İndüksiyon grubundaki 4 hastadan 3?ü gansiklovir ile pre-emptif tedavi alırken, konsolidasyonda ise sadece 1 hastaya tedavi verildi. Altta yatan hematolojik malignite yönünden değerlendirildiğinde, AML alt grubundaki 96 hastanın 2?sinde (%2,0), ALL alt grubunda ise 38 hastanın 7?sinde (%18,4) CMV infeksiyonu saptanmış olup aradaki fark istatistiksel olarak anlamlı idi (p=0,020). HyperCVAD verilen 19 hastanın 4?ünde (%21,0) CMV geliştiği gözlemlendi (p=0,014). Ayrıca siklofosfamid kullanımının da CMV infeksiyon sıklığını artırdığı saptandı (%17.1, p=0,006). Maliyet-etkinlik analizinde, 1 CMV infeksiyonunun saptanması, geri ödeme kurumuna 22,607 TL?ye mâl oldu. Sonuç olarak, akut lösemili hastalarda indüksiyon ve/veya konsolidasyon döneminde rutin CMV monitorizasyonu yararlı bulunmamıştır. Akut lösemi hastalarının en azından günümüz için klinik olarak değerlendirilmesi, özellikle ALL?si olan, yüksek doz siklofosfamid, steroid ve hyperCVAD gibi protokolleri alan hastalarda dikkatli olunması daha uygun olacaktır

Zwiększone stężenie w osoczu asymetrycznej dimetyloargininy wiąże się z poszerzeniem aorty wstępującej: badanie kliniczno-kontrolne

Background: Asymmetric dimethylarginine (ADMA) is an endogenous inhibitor of nitric oxide synthase. Aim: We aimed to determine plasma ADMA levels in patients with ascending aorta dilatation in comparison to those without aorta dilatation, and to evaluate the diagnostic, predictive, and prognostic value of serum ADMA level for aorta dilatation. Methods: This was a cross-sectional case-control study. A total of 104 consecutive patients (female/male, 35/69; mean age, 62.75 ± 13.11 years) diagnosed with ascending aorta dilatation (≥ 4.5 cm) on echocardiography (case group), and 52 age-and gender-matched patients (female/male, 17/35; mean age, 63.44 ± 7.56 years) with normal aorta dimensions (≤ 3.8 cm) (control group) were included. Routine biochemical and haematological analysis in addition to measurement of serum ADMA level were performed. Results: The mean diameter of ascending aorta measured on echocardiography was 4.95 ± 0.57 cm and 3.34 ± 0.36 cm in patients with aorta dilatation and those without aorta dilatation, respectively (p < 0.001). Serum ADMA level was significantly higher in patients with aorta dilatation than in the control group (1.70 ± 1.12 μmol/L vs. 0.79 ± 0.76 μmol/L, respectively, p < 0.001). There was significant positive correlation between ADMA level and aortic diameter in Spearman correlation analysis (r = 0.317, p < 0.001). In linear regression analysis, ADMA was found to be a significant independent predictor of aorta diameter (Beta = 0.26, p < 0.001). Receiver-operator characteristic curve analysis also revealed that serum ADMA cut-off level over 0.29 μmol/L predicts aorta dilatation (≥ 4.5 cm) with 94% sensitivity and 92% specificity and with high ac­curacy (area under curve: 0.786; 95% confidence interval: 0.709–0.863, p < 0.001). Conclusions: Serum ADMA level is diagnostic for ascending aorta dilatation with high sensitivity and specificity, and should be considered for use in clinical diagnosis of aorta dilatation.  Wstęp: Asymetryczna dimetyloarginina (ADMA) jest endogennym inhibitorem syntazy tlenku azotu. Cel: Badanie przeprowadzono w celu oznaczenia osoczowego stężenia ADMA u chorych z poszerzeniem aorty wstępującej w porównaniu z osobami bez poszerzenia aorty oraz oceny diagnostycznej, predykcyjnej i prognostycznej wartości stężenia ADMA w odniesieniu do poszerzenia aorty. Metody: Do przekrojowego badania kliniczno-kontrolnego włączono 104 kolejnych pacjentów (kobiety/mężczyźni: 35/69; średnia wieku: 62,75 ± 13,11 roku) z rozpoznaniem poszerzenia aorty wstępującej (≥ 4,5 cm) ustalonym na podstawie ba­dania echokardiograficznego (grupa przypadków) oraz 52 osoby dopasowane pod względem wieku i płci (kobiety/mężczyźni: 17/35; średnia wieku: 63,44 ± 7,56 roku) z prawidłowymi wymiarami aorty (≤ 3,8 cm) (grupa kontrolna). Oprócz oznaczenia stężenia ADMA w osoczu wykonano rutynowe badania biochemiczne i hematologiczne. Wyniki: Średnie wymiary aorty wstępującej w badaniu echokardiograficznym wynosiły 4,95 ± 0,57 cm i 3,34 ± 0,36 cm, odpowiednio u chorych z poszerzeniem aorty i u osób bez poszerzenia aorty (p < 0,001). Stężenie ADMA w osoczu były istotnie wyższe u pacjentów z poszerzeniem aorty niż w grupie kontrolnej (odpowiednio 1,70 ± 1,12 μmol/l vs. 0,79 ± 0,76 μmol/l; p < 0,001). W analizie korelacji Spearmana wykazano istotną dodatnią zależność między stężeniem ADMA a poszerzeniem aorty (r = 0,317; p < 0,001). W analizie regresji liniowej stwierdzono, że stężenie ADMA jest istotnym niezależnym czynnikiem predykcyjnym wymiaru aorty (Beta = 0,26; p < 0,001). Ponadto, analiza krzywych ROC wykazała, że wartości powyżej punktu odcięcia stężenia ADMA w osoczu wynoszącego 0,29 μmol/l pozwalają na predykcję poszerzenia aorty (≥ 4,5 cm) z czułością wynoszącą 94% i swoistością równą 92%, przy wysokiej dokładności (pole pod krzywą: 0,786; 95% przedział ufności: 0,709–0,863; p < 0,001). Wnioski: Stężenie ADMA w osoczu stanowi parametr diagnostyczny w odniesieniu do poszerzenia aorty wstępującej, który cechuje się wysoką wrażliwością i swoistością, dlatego należy rozważyć stosowanie go w celu ustalania klinicznego rozpo­znania poszerzenia aorty.

Otozomal dominant polikistik böbrek hastalığında ürogenital kistlerin semen parametreleri üzerine etkisi var mı ?

WOS: 000374928100006OBJECTIVE: Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disease with cysts in many organs including the urogenital tract. The aim of the study was to evaluate the relationship between urogenital cysts, semen pathologies and infertility in ADPKD. MATERIAL and METHODS: Male ADPKD patients aged 18-60 with creatinine clearance years higher than 60 ml/min were included. All patients had magnetic resonance imaging of the urinary system and pelvis, scrotal Doppler ultrasonography and sperm analysis. The results were compared with those of a healthy control group. RESULTS: 27 patients and 17 volunteers were included. Seminal vesicle and prostate cysts were detected in four (15%) and six (22%) patients, respectively. Five of the 23 married patients (21%) had infertility and this rate was higher than in the control group (p=0.044). The ratio of sperms with normal morphology and progressive motility was lower, and the rate of hypospermia, oligozoospermia, azospermia, asthenozoospermia and teratozoospermia were higher in the patient group. There was no significant difference between patients with/without urogenital cysts regarding seminal pathologies. CONCLUSION: Seminal abnormalities and infertility are more frequent in patients with ADPKD. Defects in spermatogenesis and sperm motility may be related to urogenital cysts as well as ciliary pathologies. There is a need for further studies evaluating the role of urogenital cysts in semen pathologies.AMAÇ: Otozomal dominant polikistik böbrek hastalığı (ODPBH) ürogenital sistemle birlikte birçok organda kist oluşumuna neden olabilen sistemik bir hastalıktır. Çalışmada, ODPBH olan bireylerde ürogenital kistler ile semen patolojileri ve infertilite ilişkisi değerlendirilmiştir. GEREÇ ve YÖNTEMLER: Çalışmaya 18-60 yaşları arasında, kreatinin klirensi 60 ml/dakika/1.73 m2’nin üzerinde, ODPBH olan erkekler dahil edildi. Tüm hastalara üriner sistem ve pelvik manyetik rezonans(MR) inceleme, skrotal Doppler ultrasonografi ve semen analizi yapıldı. Sonuçlar sağlıklı kontrol grubu ile karşılaştırıldı. BULGULAR: Yirmiyedi hasta ve 17 gönüllü çalışmaya dahil edildi. Seminal vezikül kisti 4(%15), prostat kisti 6 (%22) hastada tespit edildi. Kontrol grubundan daha sık olarak, evli olan 23 hastanın 5’inde (%21) infertilite mevcuttu (p=0.044). Normal morfolojili sperm oranları ve ileri motilite daha düşük, hipospermi, oligozoospermi, azospermi, asthenozoospermi ve teratozoospermi oranları hasta grubunda daha yüksekti. Ürogenital kisti olan/olmayan hastalarda semen patolojileri açısından anlamlı fark yoktu. SONUÇ: Seminal anormallikler ve infertilite ODPBH olanlarda daha sıktır. Spermatogenez ve sperm motilite defektleri siliar patolojiler gibi urogenital kistlerle ilişkili olabilir. Ürogenital kistlerin semen patolojilerindeki rolünü değerlendirmek için ileri çalışmalara ihtiyaç vardır

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey

Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association. Materials and Methods: Mutational analyses for the BRCA1/BRCA2 genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases. Results: Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). BRCA1/BRCA2 gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in BRCA1 were found in 4.9%, whereas 12% were in BRCA2 (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations. Conclusion: Patients with BRCA2 mutations were significantly more common than those with BRCA1 mutations. In sporadic cases, there was a lower proportion with BRCA1/BRCA2 variants, as expected, and these results were consistent with the data of Mediterranean-region populations. However, the present study, because of the large sample size, revealed more robust findings than previous studies. These findings may be helpful in facilitating the clinical management of BC for both familial and non-familial cases