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31.
An osteoid osteoma of the distal phalanx of the thumb in a 14-year-old girl is described. Apart from the rare site of the lesion, other unusual features included early closure of the epiphyseal plate, enlargement of the involved segment of the thumb, and hypertrophy of the nailbed. The radiographic appearance was unusual in that it simulated a soft tissue mass eroding the bone from without. 相似文献
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To see whether kinetic assays of lipoamide dehydrogenase could be used for carrier detection or preclinical diagnosis, Michaelis-Menten constants (KmL and KmH) for the enzyme were determined in platelets from families with a form of recessive Friedreich ataxia and low activities of the enzyme. The KmL of patients' enzyme was 132 +/- 5 microM lipoamide (mean +/- SEM) versus 56 +/- 9 microM for controls (p less than 0.001), and KmH for the patients was 421 +/- 19 microM versus 147 +/- 14 microM for the controls (p less than 0.001). The activity and Km values of one patient's enzyme were abnormal 1 year before neurologic signs appeared. The Km values for the enzymes of the six parents were also elevated (average KmL, 105 +/- 10 microM; average KmH, 378 +/- 47 microM, p less than 0.02). The maximal activities of the parents' enzymes, relative to a mitochondrial marker, were intermediate between the mean maximal control activity and the mean activity for the affected offspring. The data suggest that the abnormalities of lipoamide dehydrogenase are inherited in a recessive pattern in these families. 相似文献
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Molloy A Nair S Cooke FJ Wain J Farrington M Lehner PJ Torok ME 《Journal of clinical microbiology》2010,48(12):4655-4657
The prevalence of Salmonella enterica serotype Paratyphi A infection is increasing, and multidrug resistance is a well-recognized problem. Resistance to fluoroquinolones is common and leads to more frequent use of newer agents like azithromycin. We report the first case of azithromycin resistance and treatment failure in a patient with S. Paratyphi A infection. 相似文献
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Torok JA Brahmajothi MV Zhu H Tinch BT Auten RL McMahon TJ 《American journal of respiratory cell and molecular biology》2012,47(1):37-43
Inhaled nitric oxide (iNO) is used to treat pulmonary hypertension and is being investigated for prevention of bronchopulmonary dysplasia in neonates. Extrapulmonary effects of iNO are widely recognized, but the underlying chemistry and pharmacology are poorly understood. Growing evidence suggests that, in addition to acting via diffusion, NO can be converted into nitrosants capable of reacting with endogenous L-cysteine (L-Cys) in the alveolar lining fluid, forming S-nitrosothiol (SNO)-L-cysteine (CSNO). CSNO can then enter cells via the type L amino acid transporter (LAT). To determine the influence of LAT and supplemental L-Cys on the functional activity of iNO and transpulmonary movement of SNOs or other related species, we exposed C57Bl6 mice to nebulized L-Cys or D-cysteine (D-Cys) and/or LAT competitors. Isolated lungs were then perfused with physiologic buffer while effluent was collected to assay perfusate SNOs. Nebulized L-Cys, but not D-Cys, augmented the iNO-induced increase in circulating SNOs in the effluent without altering iNO-induced pulmonary vasodilation. Addition to the perfusate of either L-leucine (L-Leu) or 2-amino-2-norborane carboxylic acid, two distinct LAT competitors, inhibited appearance in the perfusate of SNOs in L-Cys-exposed lungs; a higher concentration of L-Leu significantly inhibited the iNO-induced pulmonary vasodilation as well as SNO accumulation. We conclude that iNO-induced pulmonary vasodilation and the transpulmonary movement of iNO-derived SNOs are mediated in part by formation of extracellular CSNO, uptake by alveolar epithelial LAT, and/or export by LAT from the pulmonary endothelium into the circulation. Therapies that exploit and optimize LAT-dependent SNO transport might improve the efficacy of and clinical outcomes with NO-based therapy by improving systemic SNO delivery. 相似文献
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Rachel D. Torok MD Gregory A. Fleming MD Kevin D. Hill MD 《Catheterization and cardiovascular interventions》2016,87(5):939-944
Pulmonary embolism (PE) is a significant cause of morbidity and mortality among hospitalized patients, and thrombolytics are the mainstay of treatment. However, for patients who fail or have contraindications to thrombolytic therapy, catheter‐based therapies, such as the AngioVac aspiration system, have emerged as an alternative to surgical embolectomy. Here, we present the novel case of a 22 year‐old woman with Fontan circulation who developed severe postpartum cardiomyopathy and a saddle PE. She failed thrombolytic therapy but underwent successful pulmonary embolectomy by AngioVac aspiration. Patients with Fontan circulation have an increased incidence of thromboembolic events, and AngioVac thrombectomy is a valuable treatment option in these complex patients. © 2015 Wiley Periodicals, Inc. 相似文献
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Jordan A. Torok MD Manisha Palta MD Christopher G. Willett MD Brian G. Czito MD 《Cancer》2016,122(1):34-41
Surgery has long been the primary curative modality for localized rectal cancer. Neoadjuvant chemoradiation has significantly improved local control rates and, in a significant minority, eradicated all disease. Patients who achieve a pathologic complete response to neoadjuvant therapy have an excellent prognosis, although the combination treatment is associated with long‐term morbidity. Because of this, a nonoperative management (NOM) strategy has been pursued to preserve sphincter function in select patients. Clinical and radiographic findings are used to identify patients achieving a clinical complete response to chemoradiation, and they are then followed with intensive surveillance. Incomplete, nonresponding and those demonstrating local progression are referred for salvage with standard surgery. Habr‐Gama and colleagues have published extensively on this treatment strategy and have laid the groundwork for this approach. This watch‐and‐wait strategy has evolved over time, and several groups have now reported their results, including recent prospective experiences. Although initial results appear promising, several significant challenges remain for NOM of rectal cancer. Further study is warranted before routine implementation in the clinic. Cancer 2016;122:34–41. © 2015 American Cancer Society. 相似文献