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1.
One of the responsibilities of cochlear implant centers is to counsel deaf patients regarding the potential for transmitting deafness of their children. Diagnostic studies should be made to determine if deafness is an isolated event or part of a syndrome. We report the criteria used in our center for genetic counseling of the deaf.  相似文献   

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Serum thyroid hormone concentrations have been measured in 21 patients with chronic renal failure, treated conservatively and compared with values from 19 control subjects. Many patients had serum total T3 and T4 concentrations below the reference ranges. The concentrations of free T4 and free T3 and the free thyroxine index were significantly lower in patients with abnormal total concentrations of the thyroid hormones than in the controls. Both the free and the total concentrations of T4 correlated inversely with the degree of renal failure. The concentration of thyroxine binding globulin (TBG), fell within the reference range in each of the patients, but was significantly lower in the patient group when compared with the controls. These TBG concentrations, however, were not sufficiently decreased to explain the low total thyroid hormone concentrations found in the patients. The affinity of TBG for T4 and T3 in the patient and control groups was not significantly different. The TSH response to TRH was diminished in many of the patients, but the measurement of other pituitary hormones indicated that pituitary function was normal in these patients. The possible mechanisms responsible for the changes observed in thyroid and pituitary hormones are discussed.  相似文献   

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BACKGROUND: The so called tachycardia-induced cardiomyopathy may develop as a complication of persistent abnormal high rates. It is especially common in patients who have either a permanent form of junctional reciprocating tachycardia or an ectopic atrial tachycardia. Radiofrequency catheter ablation has become established as an effective and safe treatment to eliminate both arrhythmias. METHODS AND RESULTS: Four children aged from 3 months to 8 years, who had incessant tachyarrhythmias and left ventricular dysfunction (shortening fraction of mean +/- SD, 21.7 +/- 1.2%) underwent radiofrequency catheter ablation. The youngest patient had permanent junctional reciprocating tachycardia caused by a left posteroseptal pathway. She was presented with severe heart failure that did not improve with digoxin and amiodarone. The other patients had palpitations and exercise intolerance. Two of them had an ectopic atrial tachycardia caused by a single atrial focus localized in the left atrial appendage apex and the orifice of the right atrial appendage respectively. The other patient had the permanent form of junctional reciprocating tachycardia caused by a right posteroseptal pathway. All four patients underwent one successful ablation. The average procedure mean time was 3.7 hours with an fluoroscopy time of 44 minutes. There were no complications. Subsequently shortening fraction improved progressively. After a mean follow-up of 21.7 months all patients are asymptomatic without medical treatment. CONCLUSIONS: Radiofrequency catheter ablation is the therapy of choice in children with either the permanent form of junctional reciprocating tachycardia or ectopic atrial tachycardia refractory to medical treatment. The tachycardia-induced cardiomyopathy is reversible after the elimination of the arrhythmia. The presence of tachycardia-induced cardiomyopathy is an indication for radiofrequency ablation even in small infants.  相似文献   

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The aim of the study was obtain answers the following questions: 1. Are serum cadmium concentrations in patients with chronic renal failure (CRF) different from levels in healthy subjects? 2. Are serum concentrations of above mentioned metal different between haemodialysed and non-haemodialysed patients. 3. Are serum cadmium concentrations changing during haemodialysis? 66 patients with chronic renal failure (42 patients treated with haemodialysis and 24 non-haemodialysed patients) and 16 healthy subjects were observed. The blood samples in non-haemodialysed patients and healthy subjects were withdrawn only after cannula had been inserted into the antebrachial vein. The blood samples in haemodialysed patients were withdrawn four times: just before dialysis, during haemodialysis (in one hour of dialysis just in front of dialyser and just behind one) and after haemodialysis. Cadmium concentrations in serum in all examined group and cadmium concentrations in dialysis fluid and in demineralised water were measured by flame atomic absorption spectrophotometry. No significant changes were observed in serum cadmium concentration between patients with CRF and healthy subjects. Cadmium-concentration in non-haemodialysed patients was significantly higher than in haemodialysed patients. During haemodialysis a significant increase of serum cadmium level was observed. Conclusions: 1. Serum cadmium concentration in patients with CRF and in healthy subjects are not statistically different; 2. No significant changes in cadmium concentration between uraemic group patients were found; 3. Haemodialysis influences significantly on cadmium concentration.  相似文献   

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A total of 105 patients participated in this study, including 10 with chronic glomerulonephritis with normal renal function (CGN patients), 36 uraemic patients (CRF patients), 19 continuous ambulatory peritoneal dialysis patients (CAPD) without peritonitis, three CAPD patients with peritonitis, 37 patients undergoing chronic haemodialysis (HD) divided into short-term HD, 15 patients; medium-term HD, 12 patients; and long-term HD, 10 patients. IL-8 and two other proinflammatory cytokines, IL-6 and TNF alpha were tested using a specific immunoassay. IL-8, IL-6, and TNF alpha serum levels were significantly increased in patients with chronic renal failure compared to their levels in normal individuals (P < 0.0001, P < 0.05 and P < 0.0001 respectively). The most pronounced increment in IL-8, IL-6 and TNF alpha serum levels was observed in CAPD patients (P < 0.0001). CAPD patients without peritonitis showed relatively low levels of IL-8 or IL-6 in peritoneal dialysate effluents (PDE), whereas PDE-TNF alpha were not detectable in almost all patients tested. Patients with peritonitis showed very high serum and PDE levels of IL-8, IL-6 and TNF alpha. The clinical recovery from peritonitis was characterized by a rapid fall in IL-8, IL-6 and TNF alpha in serum and dialysate. HD patients showed a significant increase in serum levels of IL-8 and also IL-6 and TNF alpha compared to normal individuals (P < 0.05, P < 0.05 and P < 0.01 respectively).(ABSTRACT TRUNCATED AT 250 WORDS)  相似文献   

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It has been shown previously that antisecretory response of famotidine is altered in patients with renal failure. To evaluate the underlying mechanism(s) of this clinical observation we obtained biopsy specimens of fundic mucosa from 3 groups of patients with variable renal function (group 1 normal renal function (n = 16); group 2 chronic renal failure (n = 16), CLCR > or = 5 < 90 ml/min; group 3 hemodialysis therapy (n = 16)) (matched for age, sex, and Helicobacter pylori (Hp) status. In the homogenized samples adenylate cyclase (AC) activity was assessed and the influence of uremia on this second messenger system involved in gastric acid secretion was tested. AC activity was measured as the formation of cAMP, which was determined by RIA. The mean basal AC activity was 150 in group 1, 190 in group 2, and 120 pmol cAMP/mg protein/20 min in group 3. There was a dose-dependent stimulation by histamine (1 microM-1 mM). Emax of cAMP formation ranged between 230 and 403 pmol cAMP/mg protein/20 min and EC50 between 5.9 and 20.1 microM histamine, dependent on Hp status. Histamine-stimulated AC activation was reduced to about 50% by 0.1 mM famotidine. The sensitivity of AC to histamine seems to decrease in patients undergoing hemodialysis. Similarly, the colonization with Hp may result in decreased maximal response of the AC system towards histamine.  相似文献   

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The authors analyze the experience gained in anesthesiological management of 667 surgeries in patients with the end-stage chronic renal failure. 206 patients were operated on under epidural anesthesia and 461 under general anesthesia. The technique of anesthesia, preparation of patients, and the management during and after surgery are described. 63 hemodialysis procedures were performed for 4 h before and 154 for 12 h after surgery. The complications occurring during and after anesthesia by both methods are analyzed. Epidural anesthesia was found to be more safe for patients with the end-stage chronic renal failure. General anesthesia more often led to hemodynamic, respiratory, metabolic disorders, and other hemostasis disturbances.  相似文献   

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The mobilization of WBC from the bone marrow, as judged from hydrocortisone-induced leucocytosis, is markedly impaired in dialyzed and nondialyzed uremic patients. The release of WBC from the marginal pool by epinephrine was found to be normal.  相似文献   

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BACKGROUND: Endothelin-1 generated by the vascular endothelium contributes to basal vascular tone and blood pressure in healthy humans. Plasma concentrations of endothelin-1, which are elevated in chronic renal failure (CRF), may contribute to increased vascular tone. METHODS: We investigated the contribution of endogenous and exogenous endothelin-1 to the maintenance of vascular tone in patients with CRF (creatinine > or = 200 mumol/liter) and in age- and sex-matched healthy subjects. In a series of experiments, we measured forearm vascular responses to intra-arterial norepinephrine (30 to 240 pmol/min), endothelin-1 (5 pmol/min), the selective endothelin A (ETA) receptor antagonist BQ-123 (3 mg/hr), the mixed endothelin-converting enzyme and neutral endopeptidase inhibitor phosphoramidon (30 nmol/min), and the selective neutral endopeptidase inhibitor thiorphan (30 nmol/min). RESULTS: The maximum reduction in forearm blood flow (FBF) to norepinephrine in CRF (33 +/- 7%) was similar to that in controls (43 +/- 7%, P = 0.53). Endothelin-1 also produced a similar reduction in FBF in CRF (35 +/- 6%) and controls (36 +/- 5%, P = 0.81). BQ-123 increased FBF in CRF (11 +/- 4%) but significantly less than in controls (44 +/- 10%, P = 0.02). Phosphoramidon increased FBF in CRF (68 +/- 20%), again significantly less than in controls (181 +/- 41%, P = 0.001). Thiorphan reduced FBF similarly in CRF (22 +/- 6%) and controls (14 +/- 6%, P = 0.39). Responses to phosphoramidon were substantially greater than to BQ-123. CONCLUSIONS: These studies show that endogenous generation of endothelin-1 contributes to the maintenance of resting vascular tone in patients with CRF, as well as in healthy subjects. Although the contribution of endogenous endothelin-1 to resting vascular tone appears to be reduced in CRF, ETA receptor antagonism, and particularly endothelin-converting enzyme inhibition, should be explored as means by which to reduce vascular tone and blood pressure in patients with CRF.  相似文献   

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Plasma immunoreactive glucagon (IRG) concentrations were measured in 36 patients with chronic renal failure (CRF) and 32 normal subjects. In addition, the components of circulating IRG were analyzed by gel filtration in the fasting state and after physiological stimuli. Fasting IRG was elevated (P less than 0.001) in CRF patients (534 +/- 32 pg/ml) compared with the levels found in healthy subjects (113 +/- 9 pg/ml). Oral glucose suppressed plasma IRG in CRF patients from a basal level of 568 +/- 52 to a nadir of 354 +/- 57 pg/ml (120 min). This degree of suppression (38%) was comparable to that found in normal subjects (basal = 154 +/- 20 to 100 +/- 23 pg/ml) at 120 min (35%). Intravenous infusion of arginine (250 mg/kg) resulted in a 71% rise in IRG in CRF patients and a 166% increase in normal subjects. Gel filtration of fasting plasma from CRF patients showed three major peaks. The earliest (A) was found in the void volume (mol wt greater than 40,000) and constituted 16.5 +/- 4.7% of the elution profile. The middle peak (B) eluted just beyond the proinsulin marker (approximately 9,000 mol wt) and constituted the largest proportion of the elution profile (56.5 +/- 3.4%). The third peak (C) coincided with the standard glucagon and [125I]glucagon markers (3,485 mol wt) and comprised 27.0 +/- 4% of the IRG profile. In contrast, only peaks A and C were found in fasting plasma of normal subjects (53.6 +/- 10.4% in A and 46.4 +/- 10.4 in C). After oral glucose, glucagon immunoreactivity in the 3,500 mol wt peak (C) was markedly suppressed, while the B peak in patients with CRF declined to a lesser extent. The A peak in both groups was unchanged. After an arginine infusion only the C peak increased in both groups of subjects. Gel filtration of plasma in 3 M acetic acid gave similar profiles to those obtained in glycine albumin buffer. Exposure of serum to trypsin indicated that the B and C peaks were digestible, while the A peak was resistant to the action of the enzyme. In one sample, peak C increased after a 2-h exposure of serum to trypsin. We conclude that circulating IRG in normal subjects and patients with CRF is heterogenous. The hyperglucagonemia of renal failure is largely due to an increase in IRG material of approximately 9,000 mol wt, consistent with proglucagon, although the 3,500 mol wt component is also considerably elevated (threefold). The significance of circulating IRG levels should be interpreted with caution until the relative biological activity of the three components is established.  相似文献   

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Exposing neonatal rat heart myocytes to the redox cycling quinone naphthazarin (5,8-dihydroxy-1,4-naphthoquinone) for 15 to 45 minutes led to a time-dependent release of cathepsin D from many secondary lysosomes to the cytosol, as analyzed by morphometry. Cathepsin D was detected electron microscopically using a pre-embedding immunostaining technique that utilizes antibodies conjugated to ultra-small (0.8-nm) gold particles and subsequent silver enhancement. The exposure to naphthazarin also caused a decrease in both the pH and the ATP level of the cells within the same time frame. Lipid peroxidation was, however, not detected. Pretreatment of the cultures with alpha-tocopherol succinate prevented cathepsin D relocation, as shown by immunofluorescence. After exposure to naphthazarin, cells were washed, and normal culture conditions were re-established for 18 hours. Many cells then showed apoptotic morphology (ie, cellular shrinkage and chromatin condensation) as analyzed by Giemsa staining. Also, 41% of the cells stained positive with the TUNEL technique, and DNA fragmentation was detected by separation of intact and fragmented DNA. Apoptosis was significantly decreased in cultures pretreated with alpha-tocopherol succinate.  相似文献   

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Patients with chronic renal failure (CRF) can develop problems such as lethargy, tetany, and muscle spasms, which can increase their morbidity and mortality. Because of their non-functioning kidneys, patients with CRF require in-depth and comprehensive monitoring of calcium (Ca) and phosphorus (P) levels. This article presents advanced nursing actions and critical thinking strategies for use by the critical care nurse when caring for patients with CRF.  相似文献   

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OBJECTIVE: Vitamin D deficiency continues to be a problem in pediatrics. This report presents four children, one Caucasian male and three African-American females aged 4 to 24 months who were treated for vitamin D deficiency rickets. METHODS: One female was diagnosed in the Emergency Department during evaluation of a viral syndrome, another presented with hypocalcemic seizures and the third was a self-referral for evaluation of widened wrists. The male had biochemical rickets discovered incidentally during a hospitalization for pneumonia. All were breastfed without formula supplements. The 24-month female had severe cow and soy protein allergies and received multivitamin supplements intermittently. Birth order was from third to sixth child. Two families practiced Islam and the mothers wore veils. The females had a weight deficit for height. The females demonstrated a rachitic rosary, widening of the wrists and leg bowing. At diagnosis the serum calcium was 5.0-8.6 mg/dl, the inorganic phosphorus was 1.5-3.9 mg/dl and the alkaline phosphatase was 408-3324 U/L. The serum intact parathormone levels and the vitamin D levels were measured at Nichols Laboratories. The 25-OH vitamin D levels were 2-22 ng/ml and the 1,25(OH)2 vitamin D levels were 14-122 pg/ml. All had elevated parathormone levels. The three females had roentgenographic evidence of rickets. Two of the children also demonstrated iron deficiency. RESULTS: All patients responded to Vitamin D supplements, beginning at 2000 IU for the male and 8,000-10,000 IU daily for the females. Two children were also given calcium supplements. The three females all showed complete healing of the rickets radiologically within six months. The serum intact parathormone demonstrated an inverse correlation with the serum calcium during recovery (r=-0.669; p<0.05). CONCLUSION: Vitamin D deficiency does still occur. Breastfed children of multiparous mothers, with increased skin pigmentation, living in the higher latitudes are at increased risk and would benefit from vitamin D supplementation while breastfeeding.  相似文献   

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OBJECTIVE: To investigate the expression of monocyte tissue factor (MTF) and adhesion molecules in patients with chronic renal failure (CRF) and to look for any correlation with thrombin generation and Lp(a) lipoprotein. DESIGN: A study of MTF expression and adhesion molecules, prothrombin fragments 1+2 (PTf1+2), an index of thrombin generation, and lipoproteins in patients with CRF and in normal control subjects. BACKGROUND: Patients with end stage renal failure have an increased risk of coronary artery disease despite advances in therapy. Stimulated monocytes are potent activators of blood coagulation through the generation of MTF, which was recently implicated in the aetiology of acute coronary ischaemic syndromes. METHODS: MTF expression and adhesion molecules were measured in whole blood using immunofluorescence of monocytes labelled with anti-tissue factor antibody and CD11b and c by flow cytometry. PTf1+2 and Lp(a) lipoprotein in plasma were measured by enzyme linked immunosorbent assay (ELISA). PATIENTS: 70 patients with CRF without documented coronary artery disease (30 patients with CRF undialysed, 20 patients undergoing chronic ambulatory peritoneal dialysis (CAPD), and 20 undergoing haemodialysis (HD)), together with 20 normal controls, were studied. RESULTS: The (mean (SD)) increased MTF of CRF (48.0 (29) v 33.3 (7.2) mesf unit/100 monocytes in controls, p = 0.04) was more pronounced in patients undergoing dialysis (HD 73.1 (32.8) (p < 0.003) and CAPD 62.8 (28.9) mesf unit/100 monocytes, p < 0.04). MTF activity showed a positive correlation with both PTf1+2 and serum creatinine (p < 0.003) but not with Lp(a) lipoprotein. Lp(a) lipoprotein was significantly increased in both dialysis groups compared with controls (p < 0.005) and non-dialysis CRF groups (p < 0.02). Monocyte adhesion molecule (CD11b) was significantly higher in all three CRF groups than in the controls (p = 0.006). Conclusion: This study has demonstrated a hypercoagulable state in patients with CRF. This was especially pronounced in the dialysis patients. These findings provide a possible explanation for the increased cardiovascular and cerebrovascular morbidity and mortality in these patients.  相似文献   

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