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21.
Aspartylglucosaminuria in the United States 总被引:2,自引:0,他引:2
Stefan Hreidarsson George H. Momas David L. Valle Roger E. Stevenson Harold Taylor Joseph McCarty Steven B. Coker William R. Green 《Clinical genetics》1983,23(6):427-435
Aspartylglucosaminuria (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and skeletal abnormalities. Until now, this disorder has been described in predominantly Finnish populations with only one previous case reported in the U.S. We conclude that AGU may be more common in nowFinnish populations than the number of reported cases would indicate and should be included in the differential diagnosis in patients with suspected lysosomal storage disorders regardless of their geographical or ethnic backgrounds. 相似文献
22.
Ozer E Sengül AM Gedik S Salman S Salman F Sargin M Işsever H Satman I Yilmaz T 《Patient education and counseling》2003,51(1):39-44
To examine the influence of diabetes education on well-being, 255 patients with type 2 diabetes were recruited according to whether they attended a diabetes education program (n=126) or not (n=129). In patients who had participated in the program, the mean anxiety score was significantly lower, whereas positive well-being and general well-being scores were significantly higher than for patients who had not participated. Factors related to lower well-being included: being female, taking insulin, not attending a diabetes education program and having HbA(1c) level greater than 8%. The odds of having better well-being were two-fold higher in patients participating the diabetes education program compared with those who had not. Diabetes education has a crucial role in improving the well-being of patients with type 2 diabetes. All patients with diabetes should be encouraged to attend a diabetes education program. 相似文献
23.
Akgul A Youker KA Noon GP Loebe M 《ASAIO journal (American Society for Artificial Internal Organs : 1992)》2005,51(3):275-280
Mast cells have been implicated as important in tissue remodeling and fibrosis. We investigated the effect of mechanical ventricular unloading upon myocardial fibrosis and cardiac mast cell density in patients undergoing left ventricular assist device (LVAD) implantation. Paired myocardial tissue samples were obtained from 30 patients with end-stage cardiomyopathy at the time of LVAD implantation and at the time of removal and were compared with samples taken from donor hearts. Tissue sections were stained and quantitated for mast cells and myocardial fibrosis. Mast cell density (tryptase positive cells) in cardiomyopathy was higher than that in donor hearts (33.5 +/- 3.6 SEM cells/10 fields vs.15.2 +/- 2.0 SEM cells/10 fields respectively, p = 0.04) and was lower than LVAD supported hearts (33.5 +/- 3.6 SEM cells/10 fields vs. 49.8 +/- 5.7 SEM cells/10 fields respectively, p = 0.01). Mast cells are primarily localized in areas of increased interstitial fibrosis adjacent to myocardial cells and not vessels. There was statistically significant correlation between mast cells and interstitial collagen (p = 0.03) in patients before LVAD implantation that did not persist after mechanical support (p = 0.18). These results suggest that mechanical support with left ventricular assist devices induces an increase in mast cell number in the myocardium and an associated decrease in myocardial fibrosis. We believe these data demonstrate a dual role for cardiac mast cells in the increase in fibrosis in heart failure and the decrease after LVAD and its associated cardiac improvement. 相似文献
24.
Emine Cagnur Ulukus H Aydanur Kargi Banu Sis Banu Lebe Ilhan Oztop Atilla Akkoclu Ahmet Onen Aydin Sanli 《Applied immunohistochemistry & molecular morphology》2007,15(1):31-37
The role of survivin that regulates the biological behavior of non-small-cell lung carcinoma (NSCLC) is still controversial. We aimed to investigate survivin expression in NSCLC and to define any correlation with expressions of p53, bcl-2, bax, apoptotic index (AI), tumor cell proliferation, clinicopathologic variables, and overall survival. Tumors of 63 patients with NSCLC were examined for expressions of survivin, p53, bcl-2, bax, and Ki-67 by immunohistochemistry. AI was also evaluated. Results for each antibody were correlated with each other, and with clinicopathologic variables including age, sex, histologic subtype, TNM (T: primary tumor, N: regional lymph node metastasis, M: distant metastasis) stage, lymph node status, smoking history, and prognosis. Nuclear survivin expression was inversely correlated with p53 expression (P = 0.04, r = - 0.367), and tumor stage (P = 0.03, r = - 0.273), and positively correlated with tumor cell proliferation (P = 0.009, r = 0.329). Cytoplasmic survivin expression positively correlated with smoking history (P = 0.02, r = 0.282). Survivin/bax ratio was inversely correlated with AI (r: - 0.004). By Kaplan-Meier analysis, TNM stage (P < or = 0.001), lymph node metastasis (P = 0.04), and Ki-67 index (P < or = 0.001) were associated with survival, whereas survivin was not. In multivariate analysis, only TNM stage was an independent predictor. Although survivin and other apoptosis-related protein expressions fail to predict the clinical outcome, the present findings suggest that survivin is involved in tumor cell apoptosis and proliferation and may play a role in critical steps of cancer progression in NSCLC. 相似文献
25.
Kartaloglu Z Ilvan A Aydilek R Cerrahoglu K Tahaoglu K Baloglu H Misirli Z 《Yonsei medical journal》2003,44(1):169-173
Pneumoconiosis was diagnosed by open lung biopsy in two dental technicians who had interstitial lung disease. Mineralogical analysis was performed to investigate the origin of the dust that had been inhaled. A marked accumulation of silicon and phosphorus was found in both cases. The hard metals chromium and cobalt were also found. Dental technician's pneumoconiosis is a complex pneumoconiosis in which such dust and hard metals may play a role. 相似文献
26.
In the study, the ameliorating effects of alfa lipoic acid (ALA) against doxorubicin-induced testicular apoptosis, oxidative stress and disrupted mitochondrial fusion were investigated in male rats. Rats were divided into four groups as control, doxorubicin (DOX), DOX + ALA and ALA. A single dose of 15 mg/kg DOX was administered i.p to the DOX and DOX + ALA groups. 50 mg/kg ALA was given to the DOX + ALA and ALA groups by oral gavage every other day. After 28 days, rat testes and serum samples were collected and analysed. Administration of DOX alone caused a decrease in body and relative testicular weights, seminiferous tubule diameter and germinal epithelium thickness, Johnsen's score and serum testosterone levels. DOX treatment led to severe testicular damage such as tubular degeneration, and atrophic tubules. Also, the activities of superoxide dismutase and glutathione peroxidase were reduced, while the level of malondialdehyde was increased in the testis. The mRNA levels of apoptotic-related genes (CASP3, TP53, BAX, BCL2) and apoptotic index were increased, while mitofusin-2 decreased. DOX caused an increase in CASP3 and a decrease in mitofusin-2 immunoreactivities. Treatment with ALA markedly improved all of DOX-induced biochemical, histochemical and molecular alterations in rat testis. Consequently, ALA has a therapeutic role in ameliorating DOX-induced testicular damage in rats. 相似文献
27.
Mert Kilic Bilgen Coskun Metin Vural Ahmet Musaoglu Tarik Esen Mevlana Derya Balbay 《Andrologia》2021,53(5):e14041
In this study, we evaluated the role of the Prostate Imaging–Reporting and Data System (PI-RADS) classification of multiparametric magnetic resonance imaging (mpMRI) to determine the likelihood of prostate cancer (PCa) in patients with haemospermia. Fifty-one patients presenting with haemospermia between 2018 and 2020 were included in this retrospective study. Forty-two of the patients (82.4%) were over 40 years, and the median prostate-specific antigen (PSA) level was 1.4 ng/ml. Fourteen of the patients (27.5%) had recurrent haemospermia. All patients underwent mpMRI, and assessments were classified according to PI-RADS v2. The mpMRI revealed PI-RADS one to four lesions in 10 (19.6%), 30 (58.8%), 6 (11.8%) and 5 (9.8%) patients respectively. One patient with PI-RADS 3 and five with PI-RADS 4 lesions underwent cognitive fusion prostate biopsy depending on MRI findings, and two patients with PI-RADS 4 lesions were diagnosed with PCa. Patients with haemospermia and risk factors, that is aged over 40 years, a high PSA level or familial history of PCa, need a more thorough evaluation with mpMRI. 相似文献
28.
Ahmet Tektemur Ebru Etem Önalan Nalan Kaya Tektemur Serap Dayan Cinkara Ayten Kılınçlı Çetin İbrahim Tekedereli Tuncay Kuloğlu Gaffari Türk 《Andrologia》2021,53(2):e13954
Male infertility is a global health problem, and the underlying molecular mechanisms are not clearly known. Ion channels and microRNAs (miRNAs), known to function in many vital functions in cells, have been shown to play a significant role in male infertility through changes in their expressions. The study aimed to evaluate the alterations of testicular and/or spermatozoal potassium voltage-gated channel subfamily J member 11 (KCNJ11), Cystic fibrosis transmembrane conductance regulator (CFTR), miR-let-7a and miR-27a expressions in carbamazepine-related male infertility. Here, we showed that carbamazepine reduced sperm motility, increased abnormal sperm morphology, and impaired hormonal balance as well as increased relative testis weight and decreased relative seminal vesicle weight. On the other hand, downregulated KCNJ11 and upregulated miR-let-7a expressions were determined in testis (p < .05). Also, downregulated KCNJ11 and upregulated CFTR and miR-27a expressions were found in spermatozoa (p < .05). Interestingly, altered testicular KCNJ11 and miR-let-7a expressions were correlated with decreased sperm motility and elevated sperm tail defect. Besides, spermatozoal CFTR and miR-27a expressions positively correlated with sperm tail defects. The results indicated a significant relationship between ion channel and/or miRNA expression alterations and impaired sperm parameters due to carbamazepine usage. 相似文献
29.
Orkun Koban Ahmet Öğrenci Ezgi Ayçiçek Akar Ahmet Sadık Uyanık Mesut Yılmaz Sedat Dalbayrak 《Journal of orthopaedic science》2021,26(3):369-374
BackgroundIt is extremely difficult to treat spine disorders with stabilization in patients with rheumatoid arthritis. Because revision rates are significantly higher in rigid stabilization. To date, there is no data about patients with rheumatoid arthritis treated with dynamic stabilization. Our aim was to compare the radiological and clinical results of patients with rheumatoid arthritis who underwent lumbar rigid stabilization or dynamic stabilization with Polyetheretherketone rod (PEEK).MethodsPatients with degenerative lumbar spine disease with rheumatoid arthritis who underwent dynamic stabilization between 2013 and 2015 and rigid stabilization between 2010 and 2012 were evaluated radiologically for adjacent segment disease, proximal junctional kyphosis, system problem (nonunion, screw loosening, instrumentation failure, pull out). It was also compared according to both the revision rates and the Visual Analog Scale and Oswestry Disability Index scores at the 12th month and 24th month.ResultsThe difference of decrease in Visual Analog Scale and Oswestry Disability Index scores from preoperative to 12th month between patients who underwent dynamic stabilization and rigid stabilization was statistically insignificant. However, there was a significant difference of increase in Visual Analog Scale and Oswestry Disability Index scores between the 12th month and 24th month of patients who underwent rigid stabilization, compared with patients with dynamic stabilization. In patients with dynamic stabilization, the problems of instrumentation were seen less frequently. Revision rates were high in patients with rigid stabilization when compared the patients with dynamic stabilization.ConclusionRadiological and clinical outcomes in patients with rheumatoid arthritis operated with dynamic stabilization are more significant when compared to rigid stabilization. These patients have lower pain and disability scores in their follow up periods. Revision rates are lower in patients with dynamic stabilization. 相似文献
30.
Umut Payza Ahmet Kayali Serkan Bilgin Zeynep Karakaya Fatih Esad Topal 《Asian journal of surgery / Asian Surgical Association》2021,44(6):854-859
Background/Objective: Ischemia is a leading cause of morbidity in Mechanical Intestinal Obstruction (MIO) in which the timing of decisions of whether to proceed to surgical or conservative treatment is critical in emergency departments (ED). While advanced technological options are available, patients may be negatively affected by the application of contrast agents or radiation. The use of ultrasound is limited because of the air in the intestines does not allow a good field of vision. While biomarkers can be considered as a good alternative option at this point. In the present study we examine the effect of hemogram and blood gas parameters on early surgical decision-making in MIO patients.MethodInvolved in this observational prospective study were 264 patients diagnosed with MIO who presented to the Department of Emergency Medicine, Ataturk Research and Training Hospital, Katip Celebi University between February 2018 and February 2019. Contrast-enhanced tomography (CECT) and laboratory results of the patients were recorded. Pathology reports of the patients who underwent surgery were collected. Laboratory data were analyzed by comparing CECT and pathology reports.ResultsIn a ROC analysis of the laboratory values of the patients who were diagnosed with ileus, the sensitivity was calculated as 80% and the specificity was 57.7 in values above WBC>10.75 (109/L), 96.6%, and the specificity was 31.1% in N/L > 2.9. For intestinal ischemia, the cut-off values were WBC> 12.6 and N/L > 3.2, Lactate >2.8 mmol/L and B.E < -3.6 mmol/L.ConclusionDiagnoses of ileus are based on the results examinations and imaging methods. More data are needed to support decisions on the timing of surgery in ED. WBC, N/L, Lactate and Base Excess indicate an ischemic segment. When the parameters are evaluated together, they strongly support early surgical decision-making regarding the treatment of intestinal ischemia. 相似文献