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61.
62.
Cefle K Yildiz A Palanduz S Ozturk S Ozbey N Kylyçaslan I Colakoglu S Balci C 《International journal of clinical practice》2002,56(4):316-318
Sotos syndrome is characterised by accelerated growth, acromegalic appearance, mental retardation and social maladjustment. Most cases are sporadic, but familial cases have also been reported. We report a case of Sotos syndrome presenting with chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD). Ultrasonographic examination of the patient, his father and other family members revealed polycystic kidneys. Renal failure was present only in the Sotos case, who also had considerably larger cysts than other family members. We suggest that the underlying mechanism responsible from the somatic overgrowth in Sotos syndrome may also be linked with the development of larger cysts and earlier onset of renal failure in ADPKD. Although Sotos syndrome has been associated with urological abnormalities, chronic renal failure is very rare. To our knowledge, Sotos syndrome associated with ADPKD has not been reported before. 相似文献
63.
We aimed to determine the types of corynebacteria isolated from the blood of patients at Gaziantep University Hospital, Turkey, and their antibiotic susceptibilities. Between February 1999 and June 2001, 3530 blood samples were cultured, of which 915 were found to be positive, and these were further investigated in the bacteriology laboratory. Among positive blood cultures, coryneform bacteria were identified in 31 (3.4%) isolates. Of these, 16 (51.6%) were Corynebacterium jeikeium, six (19.4%) were Corynebacterium striatum, four (12.9%) were Corynebacterium amycolatum, two (6.5%) were Cellulomonas species, two (6.5%) were Corynebacterium afermentans and one isolate (3.2%) was Corynebacterium propinquum. Antibiotic susceptibility tests showed that C. jeikeium was resistant to various antibiotics, whereas all isolates were susceptible to vancomycin and teicoplanin. This study illustrates the importance of taking coryneform bacteria into consideration when culturing blood samples. The need to identify the species and determine its antibiotic sensitivity is emphasized. 相似文献
64.
Descending necrotising mediastinitis rarely develops and this variety of mediastinitis is a highly lethal disease. A case is reported of descending necrotising mediastinitis caused by an odontogenic infection. The importance is emphasised of prompt diagnosis and aggressive surgical mediastinal drainage for the survival of these patients. Most acute mediastinal infections result from oesophageal perforation, either secondary to oesophagoscopy or tumour erosion. Mediastinitis occasionally develops as descending necrotising mediastinitis originating from the complications of cervical or odontogenic infections. Descending necrotising mediastinitis usually has a fulminant course, leading commonly to sepsis and death. 相似文献
65.
Hyslop WB Balci NC Semelka RC 《Magnetic Resonance Imaging Clinics of North America》2005,13(2):211-224
In this article, we defined the major areas of active research in clinical MR imaging. Further increases in the number of parallel coils within an imaging array and in advances in parallel imaging pulse sequences and postprocessing will lead to further reductions in imaging time analogous to the impact of multidetector CT on helical CT. The synergism between parallel and high-field imaging will aid the development of high-field imaging. The combined dynamic and hepatic parenchymal enhancement of new contrast agents that have or may soon receive FDA approval will enable improved detection and characterization of liver lesions. The lymphotropic SPIO agents will remain an active area of clinical research to further assess their role in oncologic staging. Molecular imaging contrast research using magnetic particles and MR microscopy will continue to flourish. Screening examinations by MR imaging will re-main an area of research for the short- and intermediate term, with the final outcome dependent more on socioeconomic costs than the underlying capability of achieving high-quality screening studies. 相似文献
66.
Valerie K. Jordan Brieana Fregeau Xiaoyan Ge Jessica Giordano Ronald J. Wapner Tugce B. Balci Melissa T. Carter John A. Bernat Amanda N. Moccia Anshika Srivastava Donna M. Martin Stephanie L. Bielas John Pappas Melissa D. Svoboda Marlène Rio Nathalie Boddaert Vincent Cantagrel Andrea M. Lewis Fernando Scaglia Undiagnosed Diseases Network Jennefer N. Kohler Jonathan A. Bernstein Annika M. Dries Jill A. Rosenfeld Colette DeFilippo Willa Thorson Yaping Yang Elliott H. Sherr Weimin Bi Daryl A. Scott 《Human mutation》2018,39(5):666-675
Heterozygous variants in the arginine‐glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here, we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin‐1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies, and sensorineural hearing loss when compared with loss‐of‐function variants that are likely to lead to haploinsufficiency. A high percentage of RERE pathogenic variants affect a histidine‐rich region in the Atrophin‐1 domain. We have also identified a recurrent two‐amino‐acid duplication in this region that is associated with the development of a CHARGE syndrome‐like phenotype. We conclude that mutations affecting RERE result in a spectrum of clinical phenotypes. Genotype–phenotype correlations exist and can be used to guide medical decision making. Consideration should also be given to screening for RERE variants in individuals who fulfill diagnostic criteria for CHARGE syndrome but do not carry pathogenic variants in CHD7. 相似文献
67.
68.
Balci I Dikensoy O Bayram A Filiz A 《The Journal of international medical research》2000,28(6):300-306
We aimed to determine the present status of drug resistance of Mycobacterium tuberculosis at the Gaziantep University Hospital in south-east Turkey. Data for 1995 to 1999 were retrospectively evaluated with respect to smear-positive cases, first positive culture for Mycobacterium tuberculosis for each patient and drug-susceptibility tests for the major antituberculous drugs. Cultures were done using the Bactec 460 TB method. A total of 106 (40.2%) strains were resistant to at least one drug. Single drug resistance was observed in 47 strains (17.8%) and resistance to two or three drugs was found in 28 and 29 strains (10.6 and 11.0%), respectively. Two strains (0.8%) were resistant to all four drugs. While multidrug resistance was observed in 52 (19.7%) strains, resistance to isoniazid + rifampin was observed in 20 (7.6%) strains. This retrospective study showed that combined drug resistance of M. tuberculosis is highly prevalent in southeastern Turkey. Possible reasons for the failure of current control policies were considered. 相似文献
69.
I. Hesimov E.O. Kirimker B. Duman O. Keskin O.A. Cetinkaya S. Hayme E. Ustuner R. Idilman C. Yurdaydin A. Dokmeci H. Kumbasar A.A. Yilmaz M.B. Kologlu K. Karayalcin D. Balci 《Transplantation proceedings》2018,50(10):3076-3081
Living donor liver transplantation is a widely accepted option to treat liver diseases in several indications. Risk of liver donation is being discussed and quality of life of donors is also studied. Changes and the change pattern of quality of life were analyzed in this prospective longitudinal study.
Patients and Methods
Fifty-five donors were included. The Medical Outcomes Study Short Form 36 (SF-36) was fulfilled either in-person or during a telephone interview each donor preoperatively and at the end of the third, sixth, and 12th months.Results
Physical subdomain scores of SF-36 decreased significantly in the third postoperative month compared to preoperative score. The scores recovered in the sixth postoperative month, except for the bodily pain domain. The pain score recovered at the end of the 12th month. While social functioning score among mental subdomains of SF-36 temporarily decreased and recovered at postoperative 12th month, other mental subdomain scores and mental composition summary scores did not show a significant change.Conclusion
The quality of life of living liver donors is not permanently affected by donation. There are well-defined changes in the physical aspects of the quality of life that all seem to recover within 1 year. Donors should be preoperatively informed about this temporary change as well as complications. 相似文献70.
Murat Dayangac C. Burcin Taner Deniz Balci Izzet Memi Onur Yaprak Baris Akin Cihan Duran Refik Killi Omer Ayanoglu Yildiray Yuzer Yaman Tokat 《Transplant international》2010,23(3):285-291
The harvesting of the middle hepatic vein (MHV) with the right lobe graft for living‐donor liver transplantation allows an optimal venous drainage for the recipient; however, it is an extensive operation for the donor. This is a prospective, nonrandomized study evaluating liver functions and early clinical outcome in donors undergoing right hepatectomy with or without MHV harvesting. From August 2005 to July 2007, a total of 100 donor right hepatectomies were performed with (n = 49) or without (n = 51) the inclusion of the MHV. The decision to take MHV was based on an algorithm that considers various donor and recipient factors. There was no donor mortality in donors in either group. Overall complication rate was higher in MHV (+) donor group, however when remnant liver volume was kept above 30%, complication rates were similar between the groups. The results of this study show that right hepatectomy including the MHV neither affects morbidity nor impairs early liver function in donors when remnant volume is kept above 30%. The decision, therefore, of the extent of right lobe donor hepatectomy should be tailored to the particular conditions considering the graft quality and metabolic demand of the recipient. 相似文献