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Hulya Iliksu Gozu Sandra Mueller Rifat Bircan Knut Krohn Gazenfer Ekinci Dilek Yavuzer Haluk Sargin Mehmet Sargin Tunc Ones Cem Gezen Ekrem Orbay Beyazit Cirakoglu Ralf Paschke 《Thyroid》2008,18(5):499-508
BACKGROUND: Up to date, three thyroid-stimulating hormone receptor (TSHR) germline variants have been reported for which no functional consequences have been detected by in vitro characterizations. However, familial nonautoimmune hyperthyroidism and hot nodules are clearly associated with constitutively activating TSHR germline mutations. We describe a family with a new TSHR germline mutation that is associated with euthyroidism in 13 family members and hyperthyroidism in 1 family member. METHODS: Mutation analysis of the TSHR gene was performed by denaturing gradient gel electrophoresis. TSHR constructs were characterized by determination of cell surface expression, 3'-5'-cyclic adenosine monophosphate (cAMP) accumulation, and constitutive cAMP activity. RESULTS: A novel TSHR germline mutation (N372T) was found in a man who presented with thyrotoxicosis. The mutation was also detected in 13 family members, all of whom were euthyroid. Interestingly, an additional constitutively active somatic mutation (S281N) was identified on the second parental TSHR allele of the hyperthyroid index patient. Linear regression analysis showed a lack of constitutive activity for N372T. Moreover, coexpression studies of N372T with S281N did not reveal any evidence for a functional influence of N372T on the constitutively active mutation (CAM). CONCLUSIONS: N372T is unlikely to cause altered thyroid function. This is consistent with the finding that only the index patient with the additional somatic mutation S281N was hyperthyroid. 相似文献
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Onur Telli Hasmet Sarici Berat Cem Ozgur Omer Gokhan Doluoglu Mehmet Melih Sunay Selen Bozkurt Muzaffer Eroglu 《The Kaohsiung journal of medical sciences》2014,30(9):466-470
Bladder urothelial carcinoma is rare in young adults and occurs more commonly in older individuals. The aim of this study was to compare the clinical behavior, pathologic characteristics, and prognosis of urothelial carcinoma of urinary bladder in young versus older adults. A retrospective review of our records between 2007 and 2013 identified 56 patients (42 males and 14 females) with transitional cell carcinoma of the bladder who were less than 40 years old. Clinical and pathological parameters of patients who were less than 40 years of age were compared with those of a series of patients older than 40 years of age (the control group) during the same period. A survival analysis was performed using the Kaplan–Meier method and log-rank test, and Cox regression was performed to identify clinical parameters that affected the clinical outcomes. The mean age was 29.21 years (range, 5–40 years) for patients less than 40 years old and 61.66 years (range, 41–75) for those older than 40 years. The mean follow-up was 40.26 months (range, 12–65 months) for young patients and 42.57 months (range, 12–72 months) for the older patients. Young bladder cancer patients had smaller-sized tumors (less than 3 cm), less high-grade cancers, higher papillary urothelial neoplasms of low malignant potential, and low-grade tumors than patients older than 40 years. Multivariate logistic regression analysis predicted tumor recurrence in young patients with high-grade tumors [odds ratio (OR), 1.959; 95% confidence interval (CI), 1.235–2.965; p = 0.046] and tumors larger than 3 cm (OR, 1.772; 95% CI, 1.416–1.942; p = 0.032). The 5-year overall survival rate was 100% for young patients and 88.1% for older patients. No difference was observed in the recurrence-free (p = 0.321) and progression-free (p = 0.422) survival rates between the two groups. We concluded that although the clinical stage distribution, natural history, and outcomes of bladder urothelial cancer in young adults are similar to those in their older counterparts, clinicians must be aware that patients under 40 years of age presented with higher-grade and larger (>3 cm) tumors and are more likely to experience tumor recurrence. 相似文献
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Cengiz Bolcal Gokhan Arslan Murat Kadan Suat Doganci Mehmet Arslan Cem Barcin Atilla Iyisoy Vedat Yildirim 《Cardiovascular journal of Africa》2014,25(3):114-117
Isolated atrial septal defect (ASD) is the most common form of congenital heart abnormalities in adults and approximately 80% are located in the region of the fossa ovalis (ostium secundum ASD).1 Indications for closure are in cases where the ratio of pulmonary-to-systemic flow (Qp/Qs) is higher than 1.5, without significant elevation of pulmonary vascular resistance.Surgical closure of ASDs has been performed for over 60 years and techniques have steadily improved, using smaller incisions and minimally invasive techniques. On the other hand, in the last 20 years, various transcatheter ASD closure techniques and devices have been developed, among which, percutaneous treatment with a septal occluder device is the most popular.2,3Despite increasing use of occluder devices and the fact that studies have been published internationally pointing out some of the advantages and disadvantages compared with surgery in adults, no formal comparison of efficacy, morbidity and complications has been published.2-4 We present a retrospective comparison of short-term (three months) results for transcatheter and surgical closure of 163 ostium secundum ASD patients in a university hospital. 相似文献
55.
Ulus Y Durmus D Akyol Y Terzi Y Bilgici A Kuru O 《Archives of gerontology and geriatrics》2012,54(3):429-433
The FES-I is a questionnaire which was developed to assess fear of falling. The aim of this study was to evaluate validity and reliability of a Turkish language version of the FES-I in Turkish older people. The study sample included 70 volunteers with an age range of 65-81. To assess the test-retest reliability of the Turkish FES-I, questionnaire was applied again 10-15 days after the first interview (interclass correlation: ICC). FES-I was compared with The Modified Barthel Index (MBI), the timed up and go test (TUG), and The Berg Balance Scale (BBS) for construct validity. Cronbach's alpha (α) was used to evaluate the internal consistency. The internal structure of the FES-I was examined by factor analysis. ROC plots were used to define cut-point for the FES-I scales. Cronbach's α of the Turkish FES-I was 0.94 and the individual item ICC ranged from 0.97 to 0.99. The Turkish FES-I total scores were correlated with TUG positively, and MBI, and BBS negatively. The cut-off score to differentiate between persons with fear of falling and persons without fear of falling was 24 points. It was found that the Turkish version of the FES-I was a reliable and valid measure of fear of falling in Turkish older people. 相似文献
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Uçan H Alemdaroğlu E Yoldaş TK Erdem Özdamar S Akyüz M Hatipoğlu C 《Rheumatology international》2012,32(2):525-528
Diabetic muscular infarct (DMI) is a rare condition, which begins with acute onset of extremity pain and swelling. Patients
usually have long-standing disease and poorly controlled diabetes mellitus (DM). Thigh muscle group is the most commonly involved
side, while lower leg involvement is rare. We represent herein a 22-year-old patient with type I DM who admitted to our outpatient
clinic due to painful swelling of the left leg. In physical examination, anterior left leg was painful and firm on palpation;
there was diffuse swelling extending to the knee and ankle with mild local fever and redness. T2-weighted MRI demonstrated
hyperintensity in left leg muscles. A biopsy confirmed the diagnosis of DMI. She was treated with glucose regulation, analgesics,
antiplatelet treatment and rest. At her 6 months, recurrence of DMI was observed. DMI should be considered in diabetic patients
with extremity pain and swelling. Treatment plan should include the regulation of the blood glucose and evaluation of end-organ
complications, analgesia, and bed rest. 相似文献