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91.
The association of sickle cell trait (SCT) and hereditary spherocytosis (HS) has been reported in only 18 patients. Three of these 18 patients experienced splenic infarct or acute splenic sequestration. We report here a 46-year-old African-American male, the oldest reported case to date, who experienced episodes of hemolysis and severe left upper quadrant pain for the past 26 years. The patient had compensated hemolysis with splenomegaly. A CT scan of the abdomen revealed a large infarct in the spleen. The diagnosis of SCT was confirmed with isoelectric focusing, cation exchange and reverse-phase HPLC. The presence of a silent, interacting globin variant as the cause of hemolysis and sickling in the spleen was ruled out by sequencing of the alpha1-, alpha2- and beta-globin genes. The diagnosis of HS was established by an osmotic fragility test. The interaction of HS and SCT leads to RBC dehydration with increased MCHC and intracellular Hb S concentration presumably favoring intrasplenic sickling and resultant splenic infarcts and sequestration as seen in this case. 相似文献
92.
Holley MC 《International journal of pediatric otorhinolaryngology》2003,67(Z1):S1-S5
Hair cell loss is usually a function of age, noise, ototoxic drugs and genetics. Therapeutic strategies fall into two categories: protection and regeneration. Protective methods include targeted application of growth factors and other agents to promote cell survival, and systemic application of drugs to prevent activation of programmed cell death. These strategies are related to treatments that cause predictable damage, such as the use of aminoglycoside antibiotics. The challenge of hair cell regeneration is more difficult. Instead of preventing cell loss, we must consider methods of stimulating cell division and hair cell differentiation from existing cells. We need to know much more about the molecular mechanisms that govern these processes so that we can identify potential targets for specific drugs or gene therapies. One method of approaching the issue is to combine in vitro models of developing hair cells with genomic and proteomic technologies. The benefits of hair cell re-growth may not be limited to full replacement of pre-existing cells. Surrogate hair cells may help to maintain cochlear innervation, even if they do not detect sound, and this property could be harnessed to improve the performance of cochlear implants. 相似文献
93.
Differences in the Carboxy-Terminal (Putative Phospholipid Binding) Domains of Clostridium perfringens and Clostridium bifermentans Phospholipases C Influence the Hemolytic and Lethal Properties of These Enzymes
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Marie Jepson Angela Howells Helen L. Bullifent Barbara Bolgiano Dennis Crane Julie Miller Jane Holley Pramukh Jayasekera Richard W. Titball 《Infection and immunity》1999,67(7):3297-3301
The phospholipases C of C. perfringens (alpha-toxin) and C. bifermentans (Cbp) show >50% amino acid homology but differ in their hemolytic and toxic properties. We report here the purification and characterisation of alpha-toxin and Cbp. The phospholipase C activity of alpha-toxin and Cbp was similar when tested with phosphatidylcholine in egg yolk or in liposomes. However, the hemolytic activity of alpha-toxin was more than 100-fold that of Cbp. To investigate whether differences in the carboxy-terminal domains of these proteins were responsible for differences in the hemolytic and toxic properties, a hybrid protein (NbiCalpha) was constructed comprising the N domain of Cbp and the C domain of alpha-toxin. The hemolytic activity of NbiCalpha was 10-fold that of Cbp, and the hybrid enzyme was toxic. These results confirm that the C-terminal domain of these proteins confers different properties on the enzymatically active N-terminal domain of these proteins. 相似文献
94.
95.
Magill HL; Clarke EA; Fitch SJ; Boulden TF; Ramirez R; Siegle RL; Somes GW 《Radiology》1986,161(3):625-630
A multicenter clinical study was conducted using iohexol, a second-generation nonionic contrast medium, for excretory urography performed in 130 children. Doses of iohexol (300 mg iodine/ml) ranged between 150 and 660 mgI/kg (0.5 and 2.2 ml/kg). Iohexol was tolerated well, and no significant adverse reactions occurred. Sixty-five iohexol urograms were evaluated to determine the minimum dose for adequate visualization of the kidneys and collecting systems. A dose greater than 300 mgI/kg (1.0 ml/kg) always resulted in a urogram of diagnostic quality, while visualization was insufficient for diagnosis in 10% of studies done with doses of 150-300 mgI/kg (0.5-1.0 ml/kg). Another 65 iohexol urograms were compared in a blinded manner with a similar number of studies performed using iothalamate meglumine at comparable iodine concentration and dose. Visualization of calyces and pelvoinfundibular structures achieved with iohexol was rated better with statistical significance, but there was no difference in visualization of the renal parenchyma or ureters. Use of iohexol in excretory urography may be advantageous in children who are at greatest risk for an adverse reaction to contrast media or in those most likely to benefit from use of a low osmolality contrast agent. 相似文献
96.
97.
Localization of glycoconjugates recognized by the HNK-1 antibody in mouse and chick embryos during early neural development 总被引:6,自引:0,他引:6
The monoclonal antibody HNK-1 recognizes a carbohydrate epitope present on a host of glycoconjugates which include the glycoproteins neural cell adhesion molecules (N-CAM) myelin-associated glycoprotein and ependymins, and two glycolipids. Other antibodies, including NC-1, L2 and IgM paraproteins from neuropathy patients share similar binding specificity to the same or related sulfated glucuronyl-containing antigen (SGA). To further investigate its possible significance in early development, the distribution of SGA was studied in the head region of early developing chick (S13-S18) and mouse (E8.5-E11.5) embryos by immunocytochemistry. A striking species difference was found in the apparent distribution of immunodetectable SGA. In chick, migrating neural crest cells and their related cell types were heavily stained by HNK-1; whereas no stain was detectable on mouse neural crest cells at comparable stages, except perhaps in a restricted area adjacent to the otic placode and immediately adjacent to the neural tube. Within the developing CNS, the distribution of SGA was similar in both species. It was first expressed on neuroepithelial cells prior to axonal outgrowth, and was distributed in a continuous zone along the entire lateral walls of the early neural tube. Little or no SGA was detectable along most of the floor and roof plates. SGA appeared during this same period in the lateral basal lamina and within the adjacent mesenchyme and nearby cells. SGA was particularly evident on neuroepithelial endfeet at this stage. Early developing longitudinal axons were subsequently found to grow in association with the endfeet of SGA-positive neuroepithelial cells. These findings, in conjunction with previous studies, suggest that SGA is associated as a marker, and perhaps functionally, with the organization of early neuronal settling and axonal growth patterns within the developing vertebrate CNS. 相似文献
98.
99.
Aaron B. Holley Joseph G. Cheatham Jeffrey L. Jackson Lisa K. Moores Todd C. Villines 《Journal of thrombosis and thrombolysis》2009,28(4):506-512
Background The tricuspid annular plane systolic excursion (TAPSE) and the right ventricular performance index (RVPI) are quantitative measurements that are valid predictors of clinical outcomes in CHF, MI, PAH, and chronic pulmonary disease. We sought to measure TAPSE and RVPI in patients diagnosed with acute pulmonary embolism (APE) to assess for correlation with known predictors of clinical outcomes. Methods Patients admitted with APE had echocardiograms performed within 24 h of diagnosis and B-type natriuretic peptide (BNP) drawn on admission. Serial troponins were measured for the first 48 h of the hospital stay, and clinical course was followed until discharge. Results A total of 29 patients were enrolled in the study. Compared to those with a normal study, significantly more patients with an abnormal TAPSE had an elevated BNP (60% vs. 5%; P = 0.004) and troponin (50% vs. 11.1%; P = 0.042). The mean TAPSE was 22.3 mm when BNP was normal and 17.4 mm when elevated (P = 0.003). TAPSE values were significantly lower in patients with abnormal RV function by echocardiogram graded by a blinded cardiologist (17.6 mm vs. 21.7 mm; P = 0.03). Both TAPSE and RVPI correlated significantly with septal flattening, RVEDD, and RVEDD/LVEDD by echo. Conclusions TAPSE has good correlation with surrogate markers for morbidity and mortality in APE, and both TAPSE and RVPI seem to perform as well as the standard echo parameters used to assess RV function. Both are objective and easy to measure, and therefore warrant prospective study in larger patient groups, with assessment of clinical outcomes. 相似文献
100.
RS de Vreeze D de Jong IH Tielen HJ Ruijter PM Nederlof RL Haas F van Coevorden 《Modern pathology》2009,22(2):223-231
Almost all primary retroperitoneal liposarcomas can be classified as well-/dedifferentiated liposarcoma. Rarely, however, primary retroperitoneal liposarcoma is classified as myxoid/round cell liposarcoma, based on the presence of myxoid areas and vascular crow's feet pattern, which has resulted in a debate on the classification of liposarcoma in the retroperitoneum. Genetically, myxoid/round cell liposarcoma and well-/dedifferentiated liposarcoma are different diseases. Myxoid/round cell liposarcoma is characterized by a translocation causing FUS-CHOP or EWSR1-CHOP fusion, whereas well-/dedifferentiated liposarcoma is characterized by an amplification of the 12q13-15 region, including MDM2 and CDK4 genes. As myxoid/round cell liposarcoma is highly radio- and chemosensitive, differentiation between subtypes is important to optimize treatment. We studied whether primary retroperitoneal liposarcomas diagnosed as myxoid/round cell liposarcoma represent molecularly true myxoid/round cell liposarcoma or are histopathological mimics and represent well-/dedifferentiated liposarcoma. Primary retroperitoneal myxoid/round cell liposarcoma (n=16) were compared to primary extremity myxoid/round cell liposarcoma (n=20). Histopathological and immunohistochemical features were studied. Amplification status of the 12q13-15 region was studied using a multiplex ligation-dependent probe amplification analysis, and FUS-CHOP or EWS-CHOP translocations were studied using RT-PCR. In primary retroperitoneal myxoid/round cell liposarcoma, MDM2 and CDK4 staining was both positive in 12 of 15 cases. In primary extremity myxoid/round cell liposarcoma, MDM2 was negative in 18/20 and CDK4 was negative in all cases. Multiplex ligation-dependent probe amplification showed the amplification of 12q13-15 region in 16/16 primary retroperitoneal myxoid/round cell liposarcomas and in 1/20 primary extremity myxoid/round cell liposarcomas. Translocation was present in all (18/18) primary extremity myxoid/round cell liposarcomas, but absent in all primary retroperitoneal myxoid/round cell liposarcomas. On the basis of immunohistochemical and molecular characteristics, apparent primary retroperitoneal myxoid/round cell liposarcoma can be recognized as well-/dedifferentiated liposarcoma with morphological features mimicking myxoid/round cell liposarcoma. In these cases, treatment should probably be specifically designed as for well-/dedifferentiated liposarcoma. Moreover, finding of myxoid/round cell liposarcoma translocations in a retroperitoneal localization is highly suggestive of metastasis and should prompt search for a primary localization outside the retroperitoneum. 相似文献