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1.
41 patients with hereditary and acquired antithrombin II deficiency received a substitution therapy with human plasma fraction of antithrombin III from the GDR blood-transfusion service. In 6 patients a hereditary AT III deficiency was substituted and in this context the substitution in case of thromboses during pregnancy was explained. 35 patients with acquired AT III deficiency were substituted with AT III concentrate because of thromboembolic complication in the macro-circulatory system in case of AT III deficiency due to reduced synthesis, loss, increased consumption or a combination of these conditions or because of DIC. The substitution effect was good. Dosage and injection intervals depend on the clinical condition. Side-effects have not been observed.  相似文献   

2.
Inherited thrombophilias are a group of hereditary conditions that predispose to thrombotic events. The most important monogenetic causes of the venous thromboembolic (VTE) phenotype are mutations in the genes for the coagulation inhibitors antithrombin (AT), protein C (PC), and protein S (PS). Their mutation profiles show high heterogeneity in loss-of-function defects. The frequencies of AT, PC, and PS deficiencies in VTE patients are estimated at 1.9%, 2.3%, 3.7%, respectively. The rate of recurrence in that group is 48.4%. The composite risk of recurrence for VTE patients with AT, PC or PS deficiency is estimated at 1.5 times that for VTE patients without inhibitor deficiency, for those with AT deficiency alone up to 1.9 times. The detection rates for inhibitor deficiency and symptomatic VTE are about 70% for AT, 60% for PC, and 30% for PS. These results demonstrate the problems with the varying accuracy of phenotype diagnostics and differential diagnosis of inherited and intrinsic inhibitor deficiencies.  相似文献   

3.
Case notes of 1113 consecutive new patients referred to a consultant ophthalmologist at a district general hospital were reviewed to determine the source and efficacy of referrals and the current screening practices of general practitioners and ophthalmic opticians. General practitioners initiated referral in 546 cases (49%) and ophthalmic opticians referral in 439 (39%). Visual loss or visual disturbance was the most important single reason for referral (345 cases; 31%), followed by suspected glaucoma (145 cases; 13%), abnormalities of binocular vision (140; 12.5%), disorders of eyelids or ocular adnexa (127; 11%), and red eye (86; 8%). General practitioners referred many more patients with disorders of the eyelids and adnexa and ophthalmic opticians many more patients with suspected glaucoma. Ophthalmic opticians were far more likely than general practitioners to refer patients with suspected glaucoma correctly. A total of 180 patients (16%) were referred from ocular screening, in 149 cases by ophthalmic opticians and in 10 by general practitioners. Seventy patients had glaucoma or incomplete features of glaucoma, all of them referred by ophthalmic opticians. Of eight diabetic patients referred by ophthalmic opticians, three had asymptomatic disease and in two diabetes was diagnosed as a result of ocular screening. No patient was referred for asymptomatic diabetic retinopathy from screening by general practitioners. Ophthalmic opticians were more likely than general practitioners to diagnose retinopathy requiring photocoagulation. Use of a community based service to screen for glaucoma could save unnecessary consultant outpatient appointments. A similar service could facilitate detection of diabetic retinopathy at a stage when treatment is most effective.  相似文献   

4.
The report refers to substitution therapy of 33 patients who suffered consumption coagulopathy. Various blood coagulation and fibrinolytic variables were measured. After successful AT III donation to patients suffering DIC, soluble fibrin monomer complexes (SFMC) disappeared within 0.5-12 hours. If AT III decreases SFMC proves positive again. In addition to analysis of AT III we recommend to analyse SFMC to detect thrombin induced consumption reaction (DIC). Furthermore we found the fibrin split product D-dimer was a particularly sensitive indicator of DIC in case of hyperfibrinolysis (D-dimer was analysed in six patients). The reactions of fibronectin and SFMC proved inversely proportional.  相似文献   

5.
T J Murray  S J Murray 《CMAJ》1984,131(4):336-337
Of 400 consecutive patients referred to Dalhousie University''s multiple sclerosis research unit 52 (13%) were found not to have multiple sclerosis. Forty-one (79%) of the patients were female and 11 (21%) were male. About half of the patients had raised the suspicion of multiple sclerosis, and about half had either a medical background or a close association with a patient with the disease. Although in many cases a diagnosis was made at the initial visit, in difficult cases the most effective diagnostic technique was repeated assessment of the patient over a long period. It is important to keep an open mind when assessing patients suspected of having multiple sclerosis and to apply the recognized criteria for diagnosis of the disease.  相似文献   

6.
MUTYH adenomatous polyposis (MAP) can mimic both the familial adenomatous polyposis (FAP) and hereditary nonpolyposis colon cancer (HNPCC) phenotypes. As a result of MAP's phenotypic overlap with FAP, some DNA diagnostic laboratories perform MUTYH testing in conjunction with APC testing in patients with suspected FAP or attenuated FAP (AFAP). In addition to testing FAP/AFAP samples for MUTYH mutations, we were interested whether there would also be value in testing samples referred for HNPCC testing. To determine this, we tested a consecutive series of 229 samples referred for HNPCC testing for the two most common MUTYH mutations in the Caucasian population. To enrich our study population with MAP cases, we only included samples from patients with early onset colorectal cancer (CRC diagnosed <50 years old) in whom HNPCC had been excluded by microsatellite instability testing (microsatellite stable or low microsatellite instability). Four biallelic (2%) and six monoallelic (3%) MUTYH mutation carriers were identified. No clinical factors predicted MUTYH mutation status. Specifically, a family history of vertical transmission of CRC or having few polyps (<15) did not rule out the possibility of biallelic MUTYH mutations. Thus, MUTYH mutation testing may be a reasonable cascade test in early onset CRC found to have proficient DNA mismatch repair, regardless of pattern of family history or number of polyps.  相似文献   

7.

Objectives

To retrospectively validate the new Chinese DIC scoring system (CDSS).

Methods

This study retrospectively collected the information of 619 patients (371 cases with non-hematologic malignancies, 248 cases with hematologic malignancies) who suspected of DIC in Wuhan Union Hospital during 2013-4 to 2014-6. We validated CDSS by comparing it with three leading scoring systems, from International Society on Thrombosis and Haemostasis (ISTH), Japanese Association for Acute Medicine (JAAM) and Japanese Ministry of Health and Welfare (JMHW), and evaluated its prognostic value by 28 days mortality, APACHE II and SOFA score.

Results

In non-hematologic malignancies, CDSS was more specific than JAAM (72.55% vs. 50.49%, p<0.05) and more sensitive than ISTH (77.07% vs. 62.03%, p<0.05). In hematologic malignancies, the area under the ROC curve of CDSS was larger than ISTH and JMHW (0.933 vs. 0.889, p<0.01 with ISTH, 0.944 vs. 0.845, p<0.01 with JMHW). In addition, the 28-day mortality rate, SOFA scores, APACHE II scores of DIC patients diagnosed by CDSS were significantly greater than non-DIC (P <0.05).

Conclusions

We are the first group to propose CDSS. It emphasized the values of the clinical manifestations, the rapidly declining platelet count, APTT in the diagnosis of DIC and used D-dimer as the fibrin-related maker. DIC with hematological malignancies was treated as a special part. In this study we can see that CDSS displayed an acceptable property for the diagnosis of DIC with appropriate sensitivity and specificity, and also had a good prognostic value for DIC patients.  相似文献   

8.
Dogs that bite.     
OBJECTIVE--To study the circumstances of dog bites and identify risk factors. DESIGN--Postal questionnaire survey and case note review of victims of dog bites referred between 1982 and 1989. SETTING--One referral based regional plastic surgery unit. PATIENTS--146 consecutive patients referred for primary treatment of dog bites, for whom current addresses were available for 133, 107 (81%) of whom returned the questionnaire. RESULTS--The male to female ratio was 74:72; 79 (54%) patients were aged below 15 years. The commonest dogs producing bites were Staffordshire bull terriers (15 cases), Jack Russell terriers (13), medium sized mongrels (10), and Alsatians (nine). 82 of 96 (85%) dogs were male. 29 of 47 (62%) adults were bitten at home and 45 of 60 (75%) children at a friend''s, neighbour''s, or relative''s house. 91 of 107 (85%) bites occurred in the dog''s home. Bites occurred during playing with 13 (12%), petting 14 (13%), or waking 16 (15%) dogs. 45 (42%) bites were judged as unprovoked. 32 bites were identified as severe and 11 attacks as sustained. CONCLUSIONS--Most victims are bitten by male dogs which they either own or have had frequent contact with, and the bite occurs in the dog''s home.  相似文献   

9.
Use of the Immunodiffusion Test in the Serodiagnosis of Aspergillosis   总被引:11,自引:0,他引:11       下载免费PDF全文
The diagnostic value of an immunodiffusion (ID) test with standardized precipitinogens derived from five Aspergillus species was determined with sera from 60 proven and 12 suspected cases of aspergillosis. The data demonstrated that the greatest number of aspergillosis cases were detected by the concurrent use of A. fumigatus and A. niger precipitinogens. With these precipitinogens, the ID test permitted the serodiagnosis of aspergillosis in 82% of the 60 proven cases and in 83% of the 12 suspected cases. The presence of one or more precipitins was indicative of aspergilloma, of allergic bronchopulmonary aspergillosis, or of invasive aspergillosis. Precipitins were detected in 93% of the sera from patients with aspergilloma, in 50% of the sera from patients with allergic bronchopulmonary aspergillosis, and in 88% of the sera from patients with invasive aspergillosis. Although the presence of one or two precipitin bands could indicate any form of aspergillosis, the presence of three or four was strong evidence of either aspergilloma or invasive aspergillosis. The ID test was found to be 100% specific in an evaluation of its effectiveness with 65 sera from individuals with other systemic mycotic infections, bacterial or neoplastic diseases, and from apparently normal humans. In diagnosed cases of aspergillosis, the examination of serial serum specimens provided information about the clinical course of the disease. A reduction in the number of precipitin bands and significant titer changes were noted as the patients responded to therapy.  相似文献   

10.
Summary Seven new homozygous cases of hereditary triosephosphate isomerase (TPI) deficiency have been detected in five unrelated families. Two of the families originate in France, the others from Algeria, Yugoslavia, and Morocco. Only the parents coming from Algeria and Morocco were first cousins. In the other parents no evidence of consanguinity was found. All seven patients exhibited the same symptoms, i.e. hemolytic anemia appearing very early after birth associated with pregressive neuromuscular symptoms. Expression of the deficiency is heterogeneous; this had previously been pointed out in the previously reported cases of TPI deficiency. Red cell TPI activity was 3 to 4% of the normal mean in the patients and 50 to 60% in the parents. The latter did not exhibit any clinical symptoms. The levels of red cell glycolytic intermediates and the characteristics of the mutated TPI could be studied in four of the patients only. Substantial increases of red cell dihydroxyacetone phosphate and of fructose 1,6-diphosphate, normal Km of TPI for glyceraldehyde phosphate, and thermoinstability of the enzyme were found. In addition the electrophoretic pattern showed no significant modification of the mobility of the TPI bands, but abnormal decreased staining of the two more anodal bands.  相似文献   

11.
Eighteen patients with established hereditary myeloperoxidase deficiency underwent morphological, ultrastructural, cytochemical and functional analysis in order to correlate the lack of peroxidase from phagocytes with other leucocyte activities. Cytochemical and ultrastructural findings only confirmed the peroxidase defect in neutrophil and monocyte population, whereas normal peroxidase activity was detected in eosinophil granulocytes ("Alius-Grignaschi anomaly"). Morphological analysis, as determined by both ligh and electron microscopy, showed in two patients with total MPO-deficiency a large number of neutrophils (50-60%) with nuclear abnormalities very similar to Pelger-Huet's heterozygous form (two lobed neutrophils having a typical pince-nez appearance and a nuclear chromatin coarser than that of normal PMNL). Other 2 cases displayed a 50-60% five-lobed neutrophils, as occur in congenital nuclear hypersegmentation of PMNL. These findings suggest that Alius-Grignaschi anomaly and Pelger-Huet syndrome can be found associated in the same individuals, since both these abnormalities have a genetic origin. Finally, since an impaired bactericidal and fungicidal activity was observed, no patients displayed particular susceptibility to persistent or severe infections, thus confirming the presence of MPO-independent enzymatic systems.  相似文献   

12.
alpha 1-Antitrypsin (alpha 1AT) deficiency, a common hereditary disorder responsible for emphysema in Caucasians of northern European descent, is caused by single base substitutions, deletions, or additions in the seven exons (IA-IC and II-V), of the 12.2-kb alpha 1AT gene located on chromosome 14 at q31-32.3. Of the five known representatives of the "null" group of alpha 1AT-deficiency alleles (alpha 1AT genes incapable of producing alpha 1AT protein detectable in serum) evaluated at the gene level, all result from mutations causing the formation of stop codons in coding exons of the alpha 1AT gene. The present study identifies an alpha 1AT allele (referred to as "Null(isola di procida")) caused by complete deletion of the alpha 1AT coding exons. The Null(isola di procida) allele was identified in an individual with heterozygous inheritance of M(procida) (an allele associated with alpha 1AT deficiency) and a null allele. Although results of karyotypic analysis were normal, quantification of the copies of alpha 1AT genes in this individual revealed that the index case had only half the normal copies of alpha 1AT genes. Cloning and mapping of the Null(isola di procida) gene demonstrated a deletion of a 17-kb fragment that included exons II-V of the alpha 1AT structural gene. As a consequence of the deletion, the normal noncoding exons (IA-IC) were followed by exons II-V of the downstream alpha 1AT-like gene. Sequence analysis of the deletion demonstrated a 7-bp repeat sequence (GAGGACA) both 5' to the deletion and at the 3' end of the deletion, a 4-bp palindromic sequence (ACAG vs. CTGT) bracketing the deletion, and a novel inserted 4-bp sequence (CCTG) at the breakpoint, suggesting that the mechanism of the deletion may have been "slipped mispairing."  相似文献   

13.
Cardiac disease is not easy to recognise in general practice. An echocardiogram is an excellent way to provide information about left ventricular mass and diastolic (dys)function and the presence of valvular heart disease. To improve diagnostic care of cardiac patients, an open access echocardiography service was established in the referral area of our hospital, where general practitioners were able to ask for an echocardiogram without referring the patient to the cardiologist. Between December 2002 and October 2006 echocardiograms were requested for 471 patients. Thirteen percent of the patients referred for dyspnoea and 3% of patients with a cardiac murmur had a left ventricular ejection fraction <40%. In 28% of patients no cardiac abnormality could be found. If we looked at the prevalence of hypertension in the referred patients, this was very high with a prevalence of up to 60% in the older age groups. If we included hypertension in the analysis, only 16% of patients had no structural cardiac or vascular abnormality. The study shows that the advantage of open access echocardiography in the Netherlands is that the general practitioner is able to make a better diagnosis and unnecessary referrals of patients with suspected cardiac disease can be avoided. (Neth Heart J 2007;15:432-7.)  相似文献   

14.
From 1996 to 1998, 5,965 patients with suspected plague were identified in 38 districts of Madagascar (40% of the total population are exposed). Using standard bacteriology, 917 of them were confirmed or presumptive (C + P) cases. However, more than 2,000 plague cases could be estimated using F1 antigen assay. Two out of the 711 Yersinia pestis isolates tested were resistant to chloramphenicol and to ampicillin (both isolates found in the harbour of Mahajanga). Urban plague (Mahajanga harbour and Antananarivo city) accounted for 37.4% of the C + P cases. Bubonic plague represented 97.2% of the cases, and the lethality rate was still high (20%). In comparing the exposed population, plague was more prevalent in males (M:F sex ratio 1.3:1) and patients under 20 years (2.7% babies under two years). Buboes were mainly localised in the inguinal/femoral regions (55.8%). The epidemiological risk factors are discussed.  相似文献   

15.
OBJECTIVE--To compare computed tomography and magnetic resonance imaging in investigating patients suspected of having a lesion in the posterior cranial fossa. DESIGN--Randomised allocation of newly referred patients to undergo either computed tomography or magnetic resonance imaging; the alternative investigation was performed subsequently only in response to a request from the referring doctor. SETTING--A regional neuroscience centre serving 2.7 million. PATIENTS--1020 Patients recruited between April 1986 and December 1987, all suspected by neurologists, neurosurgeons, or other specialists of having a lesion in the posterior fossa and referred for neuroradiology. The groups allocated to undergo computed tomography or magnetic resonance imaging were well matched in distributions of age, sex, specialty of referring doctor, investigation as an inpatient or an outpatient, suspected site of lesion, and presumed disease process; the referring doctor''s confidence in the initial clinical diagnosis was also similar. INTERVENTIONS--After the patients had been imaged by either computed tomography or magnetic resonance (using a resistive magnet of 0.15 T) doctors were given the radiologist''s report and a form asking if they considered that imaging with the alternative technique was necessary and, if so, why; it also asked for their current diagnoses and their confidence in them. MAIN OUTCOME MEASURES--Number of requests for the alternative method of investigation. Assessment of characteristics of patients for whom further imaging was requested and lesions that were suspected initially and how the results of the second imaging affected clinicians'' and radiologists'' opinions. RESULTS--Ninety three of the 501 patients who initially underwent computed tomography were referred subsequently for magnetic resonance imaging whereas only 28 of the 493 patients who initially underwent magnetic resonance imaging were referred subsequently for computed tomography. Over the study the number of patients referred for magnetic resonance imaging after computed tomography increased but requests for computed tomography after magnetic resonance imaging decreased. The reason that clinicians gave most commonly for requesting further imaging by magnetic resonance was that the results of the initial computed tomography failed to exclude their suspected diagnosis (64 patients). This was less common in patients investigated initially by magnetic resonance imaging (eight patients). Management of 28 patients (6%) imaged initially with computed tomography and 12 patients (2%) imaged initially with magnetic resonance was changed on the basis of the results of the alternative imaging. CONCLUSIONS--Magnetic resonance imaging provided doctors with the information required to manage patients suspected of having a lesion in the posterior fossa more commonly than computed tomography, but computed tomography alone was satisfactory in 80% of cases...  相似文献   

16.
In about 50% of the cases of spontaneous deep vein thrombosis a congenital deficiency of an inhibitor of coagulation or an insufficient fibrinolytic mechanism can be detected. In arterial thromboembolism a connection with hyperactive platelets or with a diminished availability of tissue plasminogen activator can be found in about 70%. However, in these cases the defect which provokes thrombosis is mostly acquired and is connected with hyperlipidemia and/or with atherosclerotic alterations of the vessel wall. A study on patients with thromboembolic tendency and detectable risk factors was carried out. A total of 470 patients could be observed for 2 years under an adequate antithrombotic prophylaxis. The occurrence of thromboembolic episodes 2 years prior to prophylaxis and 2 years under prophylaxis was compared. In venous cases thrombosis could be controlled almost completely by coumarins when the underlying cause was a deficient plasmatic inhibitor. In patients with diminished fibrinolysis there was only a partial effect of oral anticoagulants. A better result could be obtained when pentosan polysulfate was administered. In arterial thromboembolism the results of prophylaxis were less convincing. The efficacy of ASA in patients with an increased platelet function was only moderate. In addition, ASA hat to be discontinued in about 20% of the patients because of gastrointestinal problems. Pentosan polysulfate in patients with a diminished fibrinolytic capacity had a fairly good effect and resulted in a 60% reduction of thromboembolic manifestations. It is shown that an exact diagnosis of the underlying deficiency which is likely to cause thrombosis can also improve the efficacy and the specificity of prophylaxis.  相似文献   

17.
人类指掌皮肤嵴纹与智力发育的相关性研究   总被引:6,自引:1,他引:5  
本工作对120例遗传型智残者和60例非遗传型智残者的指、掌皮肤嵴纹数进行分析,并分别与相同例数的对照组同类资料进行比较,找出与智力发育相关的指端、指间区、指基部皮纹参数,据此将遗传型智残组按智商值的不同分为6个组,将不同智商组对应的各区嵴纹数进行分析处理。结果表明,指端皮肤嵴纹数与智商呈正相关,相关系数r=0.8319,各指间区和指基部嵴纹数与智商值呈负相关,相关系数r=-0.7392。 Abstract Digital and palmar of 120 cases of hereditary mental deficiency and 60 cases of non-hereditary mental deficiency were analysed, and compared with the control group using the same cases and identical data, and then skin vein parameter interrelated with intelligence development for digital end, interdigital area, digital root were found. In the light of this we divided the hereditary mental deficiency group into 6 accorcding to IQ value, and analysed statistically every area ridge count corresponding to different IQ group. The result showed that ridge count of digital end was positively correlated with IQ value correlative coefficientr=0.8319; Whereas ridge count of interdigital area and digital root were negatively correlated with IQ value correlative cofficientr=0.7392.  相似文献   

18.
Monitoring of AT III values and, if necessary, replacement therapy, are particularly important during the peri- and postoperative phase, or after multiple trauma, in order to prevent thromboembolic complications especially in operations on the liver, or when using heart-lung machines and in shock and pronounced DIC. AT III deficiency is partly dependent on the type and severity of the disorder with the resultant increased in turnover and partly on the synthesis capacity of the liver. Life-threatening complications can be prevented by AT III replacement.  相似文献   

19.
Augmentation rhinoplasty: observations on 1200 cases   总被引:1,自引:0,他引:1  
Over the past 14 years, from January of 1975 to December of 1988, we have done 1263 aesthetic rhinoplasties using ear cartilage. In the field of augmentation rhinoplasty, many kinds of materials, such as bone, septal cartilage, ear cartilage, and prostheses, were used. In this paper, we limit discussion to our experience with the technique for the augmentation of the nasal dorsum using the ear cartilage and compare this with other materials. Patient ages ranged from 15 to 72 years, with an average of 24 years. Some 95 percent of patients (1199) were female, and only 5 percent (64) were male. Patients were followed for a minimum of 6 months and a maximum of 20 months, with average follow-up only 8 months. Of course, we know that this is a very short follow-up period, but we could not follow patients longer because if they had no complaint about the results at the 6-month visit, they never returned, despite our efforts. Five-hundred and ten of the 1263 patients (40 percent) had been augmented elsewhere, and the silicone prosthesis was already in place. However, 753 patients (60 percent) had no previous operation. For the 510 patients (secondary rhinoplasty patients), too-high or too-large a prosthesis was the largest complaint in number, totaling 378 cases (74 percent), and psychological dissatisfaction, such as pain or an uncomfortable sensation, was the second largest in number, totaling 104 cases (20 percent). For the 753 patients (primary rhinoplasty patients), the main complaint was too-short or too-flat a nose (100 percent).(ABSTRACT TRUNCATED AT 250 WORDS)  相似文献   

20.
MOST IMPORTANT OBSERVATIONS: (FROM COUNTRY-WIDE POPULATION STUDIES) 1. In some voivodships localized in south-east and north-east parts of Poland thyroids of young children would, without protective measures, accumulate more then 60 MsV of radioiodine, thus exceeding intervention level settled for the country. 2. Thyroid function of newborns exposed to radioiodine during neonatal life was normal and frequency of neonatal hypothyroidism similar to that seen in years before Czernobyl accident. 3. Potassium iodide administrated to newborns in some of them profuced transient rise of TSH (Wolff-Chaikoff phenomenon), thus suggesting, that ki dose settled for newborns could be to high. 4. Thyroid radioiodine dose accumulated in thyroids of older children, teenagers and adults was in majority of regions well below the dose of 50 MsV. 5. The frequency of non-toxic diffuse goiter, especially in traditional endemic goiter area was found to be high, but is also relatively high in others regions of Poland and seems to depend on iodine deficiency or relative iodine deficiency. 6. The frequency of other thyroid disorders is within the limit reported in countries with relative iodine deficiency. 7. More than 95% of children and teenagers took protective, single dose of potassium iodide (about 10 millions). 8. Approximately 27% of adults took protective dose of potassium iodide (about 7 millions). 9. Organization of protective action in 11 north-east and south-east voivodoships was good about 75% of all obtain ki solution within 24 hours. In the rest of the country where protective action was ordered april 30, in afternoon hrs only about 25% obtained ki the same day and the rest during next 48-72 hrs. 10. The fact that prior to the protective action limited number of children was given iodine alcohol solution permitted for external use speaks about the fear and panic observed in Poland in first days after Czernobyl accident. 11. Extrathyroidal side-effects after ki administration appeared in about 5% were usually light or moderate and in majority of cases disappearing without medical assistance. Vomiting was most commonly seen side-effect in young children, thus suggesting that either dose, or the chemical form of the drug for this group of age was unproper. 12. Intrathyroidal side-effects of single dose of ki was rare phenomenon seen mostly in newborns, very young children and some adults with history of thyroid disease in the past. 13. Its possible that even small dose of radioiodine accumulated in thyroid produce immunological response leading to the appearance of thyroid antibodies in blood serum.  相似文献   

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