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61.
Sule Caglayan Sozmen M.D. Sakine Isik M.D. Zeynep Arikan Ayyildiz M.D. Kaan Yildiz M.D. Yasemin Cakır M.D. Erdener Ozer M.D. Suna Asilsoy Nevin Uzuner Ozkan Karaman Ozden Anal 《Pediatric dermatology》2015,32(2):e54-e57
Omenn syndrome is a combined immunodeficiency characterized by a generalized erythematous skin rash, enlarged lymph nodes, hepatosplenomegaly, severe susceptibility to infections, eosinophilia, and hyperimmunoglobulinemia E. A 3‐month‐old girl was admitted to our hospital with a history of recurrent sepsis. Physical examination revealed severe erythroderma, hepatosplenomegaly, lymphadenopathy, and failure to thrive. Laboratory findings revealed leukocytosis, lymphocytosis with high CD3 T‐cells, a high CD4:CD8 ratio, absence of CD19 B‐cells, high eosinophil count, and low immunoglobulin levels. A heterozygote RAG1 gene mutation was found. She had itchy, scaling, ichthyosiform erythroderma and protracted diarrhea. Cyclosporin treatment up to 10 mg/kg effectively resolved erythroderma and lowered total eosinophil counts, and she gained weight during treatment. Since extensive erythroderma with generalized itching causes patient discomfort in Omenn syndrome, cyclosporin treatment can be considered while waiting for treatment with hematopoietic stem cell transplantation. 相似文献
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Gamze Erfan Yakup Albayrak M. Emin Yanik Ozden Oksuz Kaan Tasolar Birol Topcu Cuneyt Unsal 《The Journal of dermatology》2014,41(8):709-715
Alopecia areata (AA) and vitiligo (V) are diseases that are correlated with psychiatric disorders before, during and after diagnosis. The Temperament and Character Inventory (TCI) is a well‐established approach for investigating personality traits in various psychosomatic diseases. The aim of this study is to compare and investigate the differences in the TCI between patients with first onset AA, patients with V and healthy controls (HC). Participants in the study included 42 patients with first onset AA, 50 adult patients with V and 60 HC who had no history or diagnoses of psychiatric or dermatological disorders. All participants were assessed with the TCI and the Dermatology Life Quality Index (DLQI). Among the temperament traits, the extravagance, disorderliness and total novelty‐seeking scores were lower, and the worry and pessimism scores were higher in patients with V compared with patients with AA and the HC. The mean score of the enlightened second nature and the total self‐directedness score of the character traits were higher in patients with V compared with patients with AA and the HC group. In the AA group, there was a negative correlation only between the reward dependence total score and the DLQI score. This study suggests that patients with first onset V have a distinct temperament, such as being unenthusiastic and unemotional, and character profiles, such as worry and pessimism, independent of their psychiatric comorbidities, and patients with AA do not have a different personality from the non‐affected population. 相似文献
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Evaluation of Pulmonary Artery Stiffness in Patients with Obstructive Sleep Apnea Syndrome 下载免费PDF全文
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Batuhan ?zmen Yavuz Emre ?ükür Cem Somer Atabekoglu Aylin Ok?u Heper Murat S?nmezer Mete Güng?r 《Journal Of Gynecologic Oncology》2011,22(1):57-60
Port-site metastases in gynecological malignancies subsequent to laparoscopy have been reported with an incidence of 1.1-16%. These metastases tend to be disappearing after primary debulking surgery and subsequent primary chemotherapy. Local resection, chemotherapy and/or radiotherapy have been defined in the management of these metastases with enhanced clinical success. However, in extremely rare cases these metastases were also defined very early during neoadjuvant chemotherapy. Herein, we present two ovarian cancer cases which are clinically diagnosed with port site metastasis during neoadjuvant chemotherapy following diagnostic laparoscopy. Although neoadjuvant chemotherapy is sometimes needed in cases of fully advanced ovarian cancers, port-site metastasis may be encountered during neoadjuvant chemotherapy. The possible poor prognosis of these patients, especially those who have ascites, should make us careful in performing diagnostic laparoscopy with preventive measures for port-site metastasis and to start the chemotherapy immediately. 相似文献
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Giuseppe De Luca MD C. Michael Gibson MD Kurt Huber MD Uwe Zeymer MD Dariusz Dudek MD Donald Cutlip MD Francesco Bellandi MD Marko Noc MD Ayse Emre MD Simona Zorman MD H. Mesquita Gabriel MD Mauro Maioli MD Tomasz Rakowski MD Mariann Gyngysi MD Arnoud W.J. van't Hof MD 《American heart journal》2009,158(3):416-421
70.
Yogesh K Vashist Guentac Uzunoglu Guelle Cataldegirmen Viacheslar Kalinin Paulus Schurr Alexandra M Koenig Sabrina Thieltges Oliver Zehler Claus Schneider Jacob R Izbicki & Emre F Yekebas 《Histopathology》2009,54(3):303-308
Aims: Gastrointestinal stromal tumours (GISTs) display genetic alterations on chromosome 22. GTn repeat (GTn) length polymorphism in the promoter of haeme oxygenase-1 gene ( HMOX-1 ) is located on chromosome 22 and associated with malignant growth. The aim was to investigate the role of HMOX-1 promoter polymorphism in GIST patients.
Methods and results: Tumour and corresponding healthy tissue DNA of 44 patients who underwent surgical resection of GIST were analysed by polymerase chain reaction, capillary electrophoresis and DNA sequencing. GTn polymorphism was classified into short (S) and long (L) allele. There was no difference detected in GTn genotype between tumour and healthy tissue DNA. Short GTn allele (SGTn) was significantly associated with metastatic disease, higher tumour recurrence rates and high risk GIST (consensus criteria 2001). Furthermore, SGTn allele carriers had significantly shorter disease-free and overall survival (log rank test, P < 0.0001). On multivariate Cox regression analysis, GTn polymorphism was identified as an independent prognostic factor for survival ( P = 0.001).
Conclusions: HMOX-1 promoter GTn polymorphism is a potential prognostic marker and may help to allocate patients to different risk groups, customized therapy and follow-up. Haeme oxygenase-1 could represent an important candidate gene in the pathogenesis and growth of GIST. 相似文献
Methods and results: Tumour and corresponding healthy tissue DNA of 44 patients who underwent surgical resection of GIST were analysed by polymerase chain reaction, capillary electrophoresis and DNA sequencing. GTn polymorphism was classified into short (S) and long (L) allele. There was no difference detected in GTn genotype between tumour and healthy tissue DNA. Short GTn allele (SGTn) was significantly associated with metastatic disease, higher tumour recurrence rates and high risk GIST (consensus criteria 2001). Furthermore, SGTn allele carriers had significantly shorter disease-free and overall survival (log rank test, P < 0.0001). On multivariate Cox regression analysis, GTn polymorphism was identified as an independent prognostic factor for survival ( P = 0.001).
Conclusions: HMOX-1 promoter GTn polymorphism is a potential prognostic marker and may help to allocate patients to different risk groups, customized therapy and follow-up. Haeme oxygenase-1 could represent an important candidate gene in the pathogenesis and growth of GIST. 相似文献