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421.
RE Brenner B Schiller U Vetter J Ittner WM Teller 《Acta paediatrica (Oslo, Norway : 1992)》1993,82(10):764-767
Serum concentrations of procollagen I C-terminal propeptide (PICP) were studied in 74 patients with various forms of non-lethal osteogenesis imperfecta and 27 unaffected family members. Using the standard deviation (SD) score, PICP concentrations were found to be ≤— 1 SD in 16%, between — 1 and —2 SD in 26% and ≤— 2 SD in 58% of the patients with osteogenesis imperfecta compared to healthy controls. PICP values were lowest in osteogenesis imperfecta type I (- 2.4 ± 0.4 SD, n= 37) followed by type III (-1.9 ± 0.5 SD, n = 13) and type IV (- 1.3 ± 0.7 SD, n= 20). Four patients with osteogenesis imperfecta with an atypical clinical course had normal or even elevated levels which may indicate heterogeneity in the underlying primary defects. In osteogenesis imperfecta type I, PICP concentrations proved to be a helpful serum marker for pedigree screening. Osteocalcin was high in 25 of 28 patients with osteogenesis imperfecta in the first decade but only in 1 of 18 older patients. Insulin-like growth factor-I was within the normal range in 53 cases of osteogenesis imperfecta, decreased in 2 and elevated in 3 patients. We conclude that PICP concentration is a useful parameter in the clinical management of osteogenesis imperfecta, including the assessment of future therapeutic interventions. 相似文献
422.
Ribeiro RC; Howard TH; Brandalise S; Behm FG; Parham DM; Wang WC; Crist WM; Parmley RT 《Blood》1994,83(12):3717-3726
We evaluated a 13-month-old boy with cytoplasmic inclusions in hematopoietic cells, transfusion-dependent anemia, splenomegaly, and striking grey skin discoloration. Bright blue inclusions, 1 to 5 microns in diameter, were observed, primarily in the cytoplasm, of 30% to 40% of myeloid cells and in occasional monocytes, megakaryocytes, and lymphocytes on Wright Giemsa-stained bone marrow and blood smears. They occasionally involved the nucleus. The inclusions lacked lysosomes, polysaccharides, or lipids. Ultrastructurally, they lacked limiting membranes and consisted of tightly packed microfilaments averaging 7 nm in diameter, consistent with the size of actin monofilaments. On light microscopy, the inclusions stained with a monoclonal antibody to muscle-specific actin. Inclusion-positive cells contained increased F-actin content and were defective in chemotactic factor-activated actin polymerization; inclusion-negative cells polymerized actin normally. Neutrophil and platelet numbers and functional studies were mildly abnormal. Anemia and skin discoloration resolved spontaneously after 18 months, but the giant inclusions have persisted to the present. We conclude that this child has a previously unreported constellation of clinical and laboratory findings comprising severe anemia, intermittent neutropenia and thrombocytopenia, abnormal neutrophil migration and platelet aggregation, giant inclusions of actin in hematopoietic cells, and grey skin discoloration. 相似文献
423.
Autosomal dominant polycythemia 总被引:5,自引:2,他引:3
Two families with polycythemia inherited as an autosomal dominant trait are described. Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia. Measurements of arterial p02s, p50s, and blood oxygen affinity were normal in all affected individuals from each family who were tested. Erythropoietin (EPO) levels were low in affected individuals from family 1 and normal in affected members of family 2. Stimulation of in vitro CFU-E colony growth by low levels of EPO was significantly increased in subjects from family 1, but normal in those affected from family 2. We conclude that although the inheritance pattern for the polycythemia in both of these families appeared to be the same, the biologic defect leading to the disorder in each of these unique families was different. The precise mechanism of the increased EPO sensitivity noted in affected subjects from family 1 awaits elucidation. 相似文献
424.
Regional infusion of urokinase into occluded lower-extremity bypass grafts: long-term clinical results 总被引:1,自引:0,他引:1
Durham JD; Geller SC; Abbott WM; Shapiro H; Waltman AC; Walker TG; Brewster DC; Athanasoulis CA 《Radiology》1989,172(1):83-87
The initial outcome, long-term patency rate, and rate of limb salvage were studied in patients after regional urokinase infusion for treatment of thrombosed lower-extremity grafts. Seventy-one infusions were performed in 53 patients. Complete clot lysis occurred in 75% of grafts, with establishment of antegrade blood flow in 66%. Variables that favorably influenced clot lysis and the reestablishment of antegrade blood flow through the graft were a short duration of occlusion and a suprainguinal graft position. The median duration of patency after infusion and adjunctive therapy was 162 days, with 75% limb salvage at 301 days. No statistically significant variables that influenced the length of patency were identified. These long-term patency results are inferior to the reported results in suprainguinal grafts after reoperation. They appear similar to reported results for occluded infrainguinal grafts treated with thrombectomy and patch grafting. 相似文献
425.
D. van Zoeren-Grobben RMW Moison WM Ester HM Berger 《Acta paediatrica (Oslo, Norway : 1992)》1993,82(8):645-649
Preformed lipid peroxidation products present in the feed may contribute to the total reactive oxygen radical load infants have to deal with and may play a role in the pathogenesis of necrotizing enterocolitis and bronchopulmonary dysplasia. In this study, the occurrence of lipid peroxidation in human milk and feeding formulas for preterm babies was evaluated in vitro. Free linoleic acid (18:2) and its hydroperoxide (18:2OOH) were measured by gas chromatography-mass spectrometry and the concentration of 18:2OOH and the 18:2OOH/18:2 ratio were used as indices of peroxidation. In all feeds peroxidation products were present, but the proportion of peroxidized 18:2 was greater in infant formula. Storage of human milk (+4°C for four days) increased lipid peroxidation. Exposure to light during tube feeding incrcased pcroxidation in infant formula but not in human milk. Different procedures for preparation, storage and feeding may decrease the concentration of these potentially toxic peroxidized lipids in human milk and infant formula. 相似文献
426.
Colorectal carcinoma evaluation with CT: preoperative staging and detection of postoperative recurrence 总被引:31,自引:0,他引:31
CT was performed prior to surgery in 103 patients with colorectal carcinoma to assess its value in staging the tumor. Preoperative IBD scans had sensitivities and specificities of 72.7% and 98.9% in detection of liver metastases, 25.9% and 96% in detection of lymph node metastases, and 61.2% and 80.6% in detection of local extension. Compared with the Duke's classification, CT correctly staged only 47.5% of patients: 16.6% were upstaged, and 83.3% were downstaged. Recurrent tumors developed in 11 of 67 patients followed for more than 24 months. CT depicted recurrence in six patients scanned prior to 12 months. Routine scans obtained at 12 months depicted unsuspected tumor recurrence in three of four patients with proved recurrent disease (one patient with pulmonary metastases did not undergo CT). This study indicates that because of the poor accuracy of CT in preoperative local staging of colorectal carcinoma, it has virtually no useful clinical role in this regard. However, preoperative CT evaluation of the liver can be useful. Routine postoperative CT, combined with fine-needle aspiration biopsy, is useful for detection of recurrent tumor. 相似文献
427.
428.
Schmiedl U; Sievers RE; Brasch RC; Wolfe CL; Chew WM; Ogan MD; Engeseth H; Lipton MJ; Moseley ME 《Radiology》1989,170(2):351-356
The utility of a macromolecular, intravascular contrast agent, albumin-gadolinium diethylenetriaminepentaacetic acid (DTPA), for the differentiation of acutely ischemic and reperfused myocardium on magnetic resonance (MR) images was investigated. Regional, reversible myocardial ischemia was produced in rats and confirmed. After reperfusion, flow to the compromised myocardial segment returned to baseline. Normal myocardium could not be differentiated from ischemic myocardium on nonenhanced MR images (n = 12). After 5 minutes of myocardial ischemia and after administration of albumin-Gd-DTPA, the ischemic zone involving the free wall of the left ventricle was characterized by the absence of significant enhancement. Normal myocardium appeared homogeneously enhanced (by 145%). This pattern persisted for up to 1 hour of myocardial ischemia. In six rats that underwent myocardial reperfusion after 5 minutes of ischemia, the normal and reperfused myocardium became isointense. Radiotracer studies with albumin-Gd-153-DTPA confirmed the decreased distribution of contrast agent to the ischemic myocardium, possibly due to decreased blood pool or a blocked primary delivery system in the ischemic myocardium. 相似文献
429.
The incidence of painful crisis in homozygous sickle cell disease: correlation with red cell deformability 总被引:1,自引:0,他引:1
Lande WM; Andrews DL; Clark MR; Braham NV; Black DM; Embury SH; Mentzer WC 《Blood》1988,72(6):2056-2059
To determine whether the vasoocclusive severity of homozygous sickle cell (SS) disease is influenced by cellular dehydration, we correlated the incidence of painful crisis with steady-state measurements of red cell hydration. Sixteen children with SS disease were followed for 3.3 to 8 years (mean, 6.8 years), and a single crisis rate was calculated for each patient. At the time of well visits, cellular hydration was assessed by measuring cell deformability, the percentage of red cells with a density greater than or equal to 1.1056 g/mL, and the percentage of irreversibly sickled cells (ISC). The incidence of painful crisis showed a strong positive correlation with Omax, a deformability measurement reflecting cellular hydration (r = .84, P less than .002), and with hemoglobin concentration (r = .59, P = .04). That is, higher crisis rates were observed in patients with less dehydrated, more deformable red cells and also in patients with higher hemoglobin concentrations. Furthermore, cell deformability and hemoglobin concentration were independent predictors of the incidence of painful crisis, which is consistent with separate effects of these two red cells parameters on vasoocclusive severity. 相似文献
430.