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41.
We report a patient with acute lymphoblastic leukemia who underwent treatment comprising chemotherapy, radiotherapy (cranial and testicular) and then a bone marrow transplant from an identical twin. He was cured of his leukemia and has been disease-free for nine years. With long term survival, there were problems, notably those of growth and endocrine insufficiency, which needed special considerations in management.  相似文献   
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OBJECTIVE: The aim of this study was to assess the use of circulating trophoblast cells in maternal peripheral blood for noninvasive prenatal diagnosis of numeric chromosomal aberrations. STUDY DESIGN: A combined procedure for immunocytochemical identification and deoxyribonucleic acid fluorescence in situ hybridization was used after a single enrichment step consisting of density gradient centrifugation. A specific HLA-G monoclonal antibody was used in combination with X and Y chromosome specific probes in deoxyribonucleic acid fluorescence in situ hybridization to confirm fetal identity of cells bearing HLA-G in the case of a male fetus. RESULTS: We detected fetal trophoblast cells expressing HLA-G in maternal blood starting at 9 weeks' gestation. In addition to fetal sex prediction with X and Y chromosome-specific probes, fetal aneuploidy was confirmed in peripheral blood from a pregnancy complicated by trisomy 21. CONCLUSION: Although the numbers of fetal cells were extremely low, the proof of concept was demonstrated. Early noninvasive prenatal screening for numeric chromosomal abnormalities with fetal trophoblast cells is feasible.  相似文献   
46.
Adult nasal dermoid cysts and sinuses are rare. Here we describe the surgical management of a 37-year-old patient with a longstanding nasal dermoid cyst and discharging sinus. A combination of an open rhinoplasty approach with a small dorsal incision was used to excise the lesion followed by primary reconstruction with septal cartilage.  相似文献   
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Mitochondrial tubulopathy: the many faces of mitochondrial disorders   总被引:1,自引:0,他引:1  
We report a rare presentation of mitochondrial disorder in a child with recurrent carpopedal spasms due to hypocalcemia and hypomagnesemia, secondary to renal proximal tubulopathy and possible hypoparathyroidism. At least two mutant mitochondrial DNA species were identified, and abnormal mitochondria were found in the muscle and renal biopsy specimens. The case illustrates the spectrum and diversity of mitochondrial presentations, arising because of heteroplasmy of mutations and the type of organs affected. Received: 31 October 2000 / Revised: 16 April 2001 / Accepted: 17 April 2001  相似文献   
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Recent studies have shown that many organophosphates can bind competitively and noncompetitively to membrane muscarinic receptors. The present study investigated the responses of the rat aortic rings to diisopropyl-flurophosphate (DFP), an organophsophorus cholinesterase inhibitor, and the possible involvement of muscarinic receptors. DFP caused a concentration-dependent contraction when added cumulatively from 10(-8) to 10(-4) M. This contraction was inhibited in a noncompetitive manner by high concentrations of atropine (1.5 x 10(-6) and 1.8 x 10(-6) M) but was unaffected by similar concentrations of selective muscarinic receptor subtype antagonists, pirenzepine, 11-2[2-[(diethylamino)methyl]-1-piperidinyl]acetyl-5, 11-dihydro-6H-rido[2,3-b][1,4]benzodiazepin-6-one (AF-DX116) and 4-Diphenylacetoxy-N-methyl piperidine methiodide (4-DAMP). Phentolamine, an alpha-adrenoceptor antagonist, was able to inhibit the DFP-induced contraction in a noncompetitive manner at a concentration of 10(-7) M. These findings suggested that the DFP-induced contraction in the rat aortic rings was mediated by norepinephrine that was released from sympathetic nerve terminals present in the aortic rings.  相似文献   
49.
The aging lung     
Structural changes occur in the respiratory system with advancing age. Lung elasticity decreases, stiffness of the chest wall increases, and respiratory muscle strength declines. These alterations contribute to gradual, but progressive, reductions in forced vital capacity, expiratory flow rates, diffusing capacity, gas exchange, ventilatory drive, and respiratory sensation. Cigarette smoking accelerates the age-related decline in flow rates. Understanding the effects of aging on the lung is important in order to distinguish pathologic changes from changes that are part of the normal aging process.  相似文献   
50.
Very few registries worldwide focus on clinical outcomes of stem cell therapy (SCT) as the large number of applications and rapid development of the field complicates registry design considerably. The National Stem Cell Therapy Patient Registry of Malaysia aims to accommodate this by using a main protocol which covers the overall design and administration of the registry, and condition-specific sub-protocols which deal with outcome measures. The registry will start with a few sub-protocols covering existing modes of SCT in Malaysia, with new sub-protocols released periodically as the need arises.  相似文献   
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