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Aydın Ece Erdal Çakmak Ünal Uluca Selvi Kelekçi İlyas Yolbaş Ali Güneş Servet Yel İlhan Tan Velat Şen 《Rheumatology international》2014,34(2):207-212
The aim of this study was to determine the Mediterranean fever (MEFV) gene mutations and their clinical correlations in children with familial Mediterranean fever (FMF) in southeast Turkey. Clinical and laboratory characteristics of 147 (65 males, 82 females) consecutive children with FMF having a positive MEFV gene mutation were prospectively investigated. Patients with negative MEFV gene mutations or atypical FMF presentations and those from other regions of the country were excluded. Clinical manifestations and disease severity scores were recorded. The six most frequent MEFV mutations including M694V, V726A, R726H, P369S, E148Q and P369S were investigated by a reverse hybridization test method. The median age of study group was 9.0 years, median age at diagnosis was 7.8 years, median age at disease onset was 5.0 years, and median follow-up duration was 4.0 years. A positive family history of FMF and parent-to-offspring transmission was found in 58.5 and 42.2 % of families, respectively. The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients. The M694V subgroup had higher mean disease severity score and longer attack duration compared with E148Q and other mutations subgroups (p < 0.05). Two patients with amyloidosis had the M694V homozygote genotype. In conclusion contrast to other regions and many other ethnicities of the world, the most frequent MEFV gene mutation was E148Q in southeast Turkey. The M694V mutation frequency was lower, and disease severity was relatively mild in FMF children of this region. 相似文献
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Ahmet Ucvet Esra Yamansavci SirzaiFunda Cansun Yakut Banu YoldasSoner Gursoy 《Archivos de bronconeumología》2014
Endometriosis is characterized by the growth of endometrium outside the uterine cavity or myometrium. There is no specific radiologic finding that defines endometriosis. Parenchymal lesions, nodules or blebs are reported in the literature, although this clinical entity is rare. Definitive diagnosis and treatment are often possible with surgery. We report here two cases: a forty-two-year-old female patient with a 2-year history of intermittent hemoptysis associated with her menstrual cycle was diagnosed as having endometriosis and treated via thoracotomy; another 30-year-old female referred to our department due to recurrent pneumothorax caused by underlying endometriosis underwent surgical treatment which revealed endometrial foci on the diaphragm. 相似文献
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Background
We aimed to investigate the correlation between ECG QRS voltage changes, N-terminal pro-B-type natriuretic peptide (NT-proBNP) levels and clinical improvement in decompensated heart failure (DHF).Methods and results
DHF patients (n = 56) with a mean age of 67.5 ± 12.6 years showed limb QRS amplitude increase and NT-proBNP level decrease with clinical improvement (p < 0.001). Significant correlation was found between percent changes (Δ%) in body weight and Δ% in QRS voltages of aVR, aVF, DII, ΣQRSI + II and ΣQRS (all limb-leads) (r = − 0.40; r = − 0.35; r = − 0.32; r = − 0.30; r = − 0.30 respectively, p < 0.05). No correlation was found between Δ% in NT-proBNP and body weight (r = − 0.23, p = 0.09). Δ% NT-proBNP was correlated with Δ% QRS voltage only in aVR (r = − 0.312, p = 0.019). In ROC analysis, ≥ 0.5 mm increase in aVR QRS voltage was found to predict ≥ 5 kg weight loss with a sensitivity of 74% and specificity of 62% (p = 0.013, AUC: 0.699).Conclusions
Increase in QRS voltages especially in aVR was found to be more sensitive than NT-proBNP to predict clinical improvement in DHF. 相似文献88.
Bilge Aldemir-Kocaba? Mücahit Murat K?cal? Mehmet G. Ramo?lu Ercan Tutar Suat Fit?z Ergin ?ift?i Erdal ?nce 《Medicine》2014,93(29)
Kawasaki disease (KD) is a multisystemic vasculitic disease. Recurrent KD is rare and generally presents in a similar clinical picture as the first episode, and early diagnosis with prompt treatment is the key point in preventing associated cardiovascular morbidities.A 9-year-old boy, who was diagnosed with KD when he was 1.5 years’ old, was referred to our hospital for surgical drainage of retropharyngeal abscess. He had a 7-day history of high fever, sore throat, left-sided neck swelling, and restricted neck movements. Subsequently, he was diagnosed with recurrent KD and retropharyngeal involvement. He was successfully treated with a single dose of intravenous immunoglobulin (IVIG) and acetyl salicylic acid.Recurrence is rare and occurs most commonly in children. Atypical presentation, incomplete disease, short duration of fever, and reduced response to IVIG treatment were found to be the risk factors for recurrence. KD can occasionally present with clinical and radiographic findings of deep neck bacterial infection. Unusual presentations in KD may cause delay in diagnosis and increase the risk of life-threatening complications.We describe a case of recurrent KD presenting with a clinical picture resembling retropharyngeal infection who fully recovered after 1 dose of IVIG instead of surgical drainage and antibiotic use. 相似文献
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Fulya Dokmeci Tuncay Yuce Serife Esra Cetinkaya 《International urogynecology journal》2014,25(10):1437-1439
The transobturator tape (TOT) procedure was described in 2001 as the safest sling technique for the treatment of stress urinary incontinence (SUI). Although routine intraoperative cystoscopy to detect bladder and urethra injuries after the TOT procedure is not usually advocated, when such perforations do occur, there is potential for further patient morbidity. We present a case report of a vesico-cutaneous fistula detected after placement of a TOT sling in a 44-year old woman, 3 months postoperatively. Cystoscopic evaluation after mid-urethral sling procedures, especially in high-risk situations such as patients with cystocele, previous pelvic floor surgery or during the learning curve of the procedure, may avoid such complications associated with unrecognized lower urinary tract injuries. 相似文献
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