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81.
Gonul Buyukyilmaz Keziban Toksoy Adiguzel Esra Kılıc 《American journal of medical genetics. Part A》2023,191(6):1581-1585
Spondylo-ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. A patient with spondylo-ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here. The patient presented with osteoporosis, platyspondyly, ocular findings, hearing loss, kyphosis, scoliosis, facial findings, intellectual disability, and undescended testicles. Previous reports of bisphosphonate treatment response were variable, whereas a long-term follow-up with bisphosphonate treatment in this case resulted in normalization of vertebral structures. Reporting such cases helps to determine the appropriate genotype–phenotype correlation in patients with XYLT2-related pathogenesis. 相似文献
82.
The paper presents the evolution at ten eyes (nine patients) that presented expulsive hemorrhage during surgical act of extracapsular extraction with implant of crystalline lens. There are several cases of extracapsular extraction than intracapsular extraction which were more short like duration. The frequency of female was 90% from cases. The good results show the efficiency of associated treatment: closing of the eyeball with scleral punctura and internal tamponing. Only one eye was lost functionally. 相似文献
83.
Hakan Özkardeş Cankon Germiyanoğlu Ümit Kurt Levent Peşkircioğlu Uğur Altuğ Demokan Erol 《Pediatric surgery international》1995,10(7):488-491
Between 1983 and 1993, 41 patients underwent a first-stage Belt-Fuqua operation for penile hypospadias repair and 39 completed the second stage. Minor complications were observed after the first stage. The primary success rate following the second stage was 82%. Major complications noted after the second stage consisted mainly of fistula formation. The surgical technique is described and alternative methods are discussed. 相似文献
84.
Age-Related Alterations in Antioxidant Enzymes, Lipid Peroxide Levels, and Somatosensory-Evoked Potentials: Effect of Sulfur Dioxide 总被引:4,自引:0,他引:4
P. Yargiçoğlu A. Ağar S. Gümüşlü S. Bilmen Y. Oğuz 《Archives of environmental contamination and toxicology》1999,37(4):554-560
The effect of sulfur dioxide (SO2) on somatosensory-evoked potentials (SEPs), thiobarbituric acid reactive substances (TBARS), and the activities of Cu,Zn-superoxide
dismutase (SOD), glutathione peroxidase (GSH-Px), and catalase (CAT) were investigated in young (3 months), middle-age (12
months), and old (24 months) Swiss male albino rats. Ten ppm SO2 was administrated to the animals of SO2 groups in an exposure chamber for 1 h/day × 7 days/week × 6 while control groups were exposed to filtered air in the same
condition. SO2 exposure caused increased levels of brain Cu,Zn-SOD activity and decreased levels of brain GSH-Px activity in all experimental
groups with respect to their corresponding control groups. Brain CAT activities were unaltered. Brain TBARS levels of all
SO2-exposed groups were significantly increased in comparison with their respective control groups. The mean latencies of P1, P2, and N2 components in the older group were either significantly different from the young or from the middle-age groups. The mean
latency of the N1 component in the older group and that of P1 and N1 in the middle-age group were significantly increased compared with the young group. SO2 exposure caused the prolongation of all components in the young group, whereas it affected only the P2 component in the middle-age group, but it did not result in any latency change in the older group in comparison with their
corresponding control groups.
Received: 22 December 1998/Accepted: 7 April 1999 相似文献
85.
Büyükafşar K Göçmen C Seçilmiş A Karataş Y Göktürk S Kalyoncu NI 《Acta medica Okayama》1999,53(5):209-215
The effects of thimerosal, a sulfhydryl oxidizing agent on nitrergic, endothelium-dependent and -independent relaxations were investigated to examine the possibility that the nitrergic neurotransmitter and endothelium-derived relaxing factor (EDRF) could be S-nitrosothiol or free nitric oxide (NO) in the isolated mouse corpus cavernosum. Thimerosal (5 x 10(-6)-2 x 10(-5) M) inhibited or almost abolished electrical field stimulation--(EFS, 30V, 0.5 ms, 15 sec, 1, 2, 4, 8, 16 Hz), acetylcholine--(ACh, 5 x 10(-8)-1.25 x 10(-6) M), glyceryl trinitrate--(GTN, 3 x 10(-7)-3 x 10(-6) M), and S-nitrosoglutathione--(GSNO, 5 x 10(-6)-1.25 x 10(-4) M) induced relaxations. Thiomerosal inhibition seems to be specific to L-arginine NO pathways since it had no effect on acidified sodium nitrite--(10(-4)-5 x 10(-4) M), photoactivated sodium nitrite--(2 x 10(-4) M), isoprenaline--(10(-6) M), or papaverine--(10(-4) M) elicited relaxations. Moreover, the inhibitory effect of thimerosal on the nitrergic, ACh- or GTN-induced relaxations were partly reversed by sulfhydryl-containing compounds, L-cysteine (10(-3) M), dithiothreitol (10(-3) M), or glutathione (10(-3) M). However L-methionine (10(-3) M), which contains a methyl group on the sulphur atom, failed to restore the thimerosal inhibition. Thimerosal did not change the contraction produced by 10(-4) M NG-nitro-L-arginine methyl ester. These findings indicate that the nitrergic neurotransmitter as well as EDRF may not be free NO but NO-transferring molecules, probably S-nitrosothiols, in the mouse corpus cavernosum. 相似文献
86.
Sarkarati B Cokuğraş AN Tezcan EF 《Comparative biochemistry and physiology. Part C, Pharmacology, toxicology & endocrinology》1999,122(2):181-190
Butyrylcholinesterase (BChE, EC 3.1.1.8) has been purified about 6600-fold from human serum with a procedure including ammonium sulfate fractionation (55-70%) with acid step at pH 4.5 and procainamide-Sepharose 4B affinity chromatography. The purified enzyme exhibited negative cooperativity with respect to butyrylthiocholine (BTCh) binding at pH 7.5. Ks was found to be 0.128 +/- 0.012 mM. Inhibition kinetics of the enzyme by Cd2+, Zn2+ and Al3+ were studied in detail. The 1/v vs 1/[BTCh] plots in the absence (control plot) and in the presence of different concentrations of cations intersected above 1/[BTCh]-axis. The data were analyzed by means of a nonlinear curve fitting program. The results demonstrated that all of the three cations are the linear mixed-type inhibitors of BChE. Ca2+ and Mg2+ had no effect on the enzyme activity in the experimental conditions. But when the enzyme was inhibited by 0.5 mM Cd2+ or Zn2+, Ca2+ and Mg2+ partially reactivated the inhibited allosteric form of BChE. Results were compared with data obtained from brain BChE purified from sheep. 相似文献
87.
Tunaci M Ozkorkmaz B Tunaci A Gül A Engin G Acunaş B 《AJR. American journal of roentgenology》1999,172(3):729-733
OBJECTIVE: The purpose of this study was to evaluate the CT findings of pulmonary artery aneurysms in patients being treated for Beh?et's disease. MATERIALS AND METHODS: Thirteen patients with Beh?et's disease who had a total of 46 aneurysms were included in the study. All patients underwent helical CT before and after treatment. Both initial and follow-up CT scans were evaluated for location, number, and size of aneurysms and for thrombosis and pulmonary parenchyma changes. RESULTS: Thirty-five (76%) of the 46 aneurysms completely disappeared during the 3-42 months of treatment (mean, 21 months), and the remaining 11 aneurysms (24%) became smaller. Both disappearance and regression of aneurysms were preceded by thrombus formation. In 15 initially thrombosed aneurysms (33%), the thrombus increased in size during treatment. After treatment, the thrombus regressed and the pulmonary artery aneurysms disappeared. Thirty-one initially nonthrombosed aneurysms (67%) first became thrombosed during treatment; later, the thrombus regressed and the aneurysm decreased in size. Perianeurysmal consolidation and air-space nodules detected in seven patients disappeared in the early stages of treatment. Mosaic attenuation areas were seen in eight patients and disappeared in seven (88%) after treatment. CONCLUSION: Pulmonary artery aneurysms in Beh?et's disease may become smaller or disappear with medical treatment. Mural thrombotic changes may be observed during the regression of pulmonary artery aneurysms. Helical CT is helpful in the diagnosis and follow-up of aneurysms and thrombosis in Beh?et's disease. 相似文献
88.
89.
90.
Kiriş T Karasu A Yavuz C Erdem T Unal F Hepgül K Baloğlu H 《Acta neurochirurgica》1999,141(12):1323-1329
The constant release of nitric oxide (NO) is essential to maintain basal cerebrovascular tone. Oxyhaemoglobin, liberated by lysis of red blood cells after subarachnoid haemorrhage binds NO and prevents its entry into vascular smooth muscle cells. While endothelium-dependent vasoconstriction is preserved, decreased levels of NO inhibit endothelium-dependent relaxation and may cause vasospasm. S-nitrosothiols are potent vasodilators and precursors of NO. The authors' aim was to determine whether S-nitroso-N-acetylpenicillamine (SNAP), a stable S-nitrosothiol compound, could reverse vasospasm in an experimental vasospasm model in rabbit. Experimental subarachnoid haemorrhage (SAH) was induced in 37 New Zealand white rabbits. The animals were divided into four groups. Control (no SAH), SAH only, SAH plus saline and SAH plus SNAP. SNAP (15 micrograms/kg/min) or 0.09% saline (equal volume) was infused 46 hours after induction of SAH. All animals were killed by perfusion fixation 48 hours after SAH occurred. Basilar arteries were removed, sectioned and their cross sectional areas were evaluated in a blind manner, by light microscopy and by using computer assisted morphometry. Experimental SAH elicited vasospasm in all animals of SAH only and SAH plus saline group. In animals treated with SNAP, arterial narrowing was markedly attenuated without producing systemic hypotension. This widening achieved statistical significance when compared to the arteries of the SAH only and SAH plus saline group (p < 0.01). This study indicates that the NO donor SNAP is a potentially useful drug to reverse cerebral vasospasm due to SAH. 相似文献