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1.
P Jones P J Hamilton G Bird M Fearns A Oxley R Tedder R Cheingsong-Popov A Codd 《BMJ (Clinical research ed.)》1985,291(6497):695-699
One hundred and forty-three multitransfused patients with hereditary haemostatic disorders were examined for evidence of disease related to the acquired immune deficiency syndrome (AIDS). Ninety-nine patients with severe haemophilia A were tested for anti-HTLV-III and 76 were found to be positive. All except one of these seropositive patients had received commercial factor VIII concentrates at some time. Eighteen patients with haemophilia B were tested and all were anti-HTLV-III negative. Three out of 36 sexual partners of patients with haemophilia A positive for anti-HTLV-III were also seropositive. One, who had recently received blood transfusions, had AIDS with Pneumocystis carinii pneumonia. Three patients with severe haemophilia A died from Aids. A further 30 haemophiliacs had AIDS related complex or lymphadenopathy that could be related to HTLV-III infection. There was a significant correlation between lymphadenopathy and anti-HTLV-III seropositivity. No evidence of casual spread of AIDS was found since all 68 health care staff tested were anti-HTLV-III negative, including three surgeons who regularly worked with patients positive for anti-HTLV-III. The resources devoted to counselling and laboratory support in centres treating people at risk and their families need to be urgently reassessed. 相似文献
2.
Genetic-epidemiologic study of haemophilia A and B in Hungary 总被引:1,自引:0,他引:1
All known surviving haemophiliacs A and B and their relatives were reexamined by laboratory and clinical methods and evaluated by a genetic-epidemiologic approach in 4 north-western countries of Hungary. The prevalence of haemophilia A and B patients born in the fifties was 2.73 and 0.25 per 10,000 persons, respectively. The reproductive fitness was found to be 0.3 in haemophilia A, and 0.8 in haemophilia B patients. The mutation rates calculated by the indirect method were 6.3 x 10(-5) for haemophilia A and 0.2 x 10(-5) for haemophilia B. 相似文献
3.
The prevalence of serological markers for present and past hepatitis B virus (HBV) infection and antibodies against cytomegalovirus (CMV) among Norwegians with coagulation factor defects was examined in serum samples collected before virus-inactivated coagulation concentrates came into use. Sera collected in 1985/86 from 324 of 377 (86%) registered persons with such defects were available. Three persons were chronic carriers of HBsAg. The prevalence of HBV antibodies was 28% compared with about 5% in the general population. The highest prevalence rate was found among patients with severe haemophilia A (44%) and in patients with haemophilia B (39%). The prevalence of anti-CMV antibodies was 75% which is similar to that found in the general Norwegian population. 相似文献
4.
F H Herrmann M Wehnert W Schr?der 《Folia haematologica (Leipzig, Germany : 1928)》1990,117(4):601-607
Since 1986 the genomic diagnosis of haemophilia A and B in the GDR is realized as a national programme. Until Aug. 1989 56 families at risk of haemophilia A are analysed using RFLPs of different intragenic and intergenic probes (BclI/F8e 16-19, KpnI-XbaI/int 22, TaqI/St 14.1). 117 out of 162 females at risk being heterozygous were identified as carriers, in 40 cases the carrier state was excluded, and in 5 females the data were not informative. Prenatal diagnosis was offered to 93 carriers in reproductive age. Six genomic prenatal diagnoses in haemophilia A were performed. In four patients different partial deletions of factor VIII:C gene were found. 10 families of haemophilia B were analysed using intragenic and intergenic probes (P 1; pX58dIIIc). 14 females were identified as carriers, 11 were excluded. The application of direct and indirect gene diagnosis in haemophilia is discussed. 相似文献
5.
The reports of 223 haemophiliacs living in the districts Halle, Leipzig, Karl-Marx-Stadt, and Gera had been analyzed for bleeding events in 1986. There were suffering from haemophilia A 185, from haemophilia B 36 and 2 persons from a complex disorder. In each case 73 patients suffer from a severe and a moderate type of haemophilia. In 55 patients the diagnosis was mild form of haemophilia and in 22 subhaemophilia. Altogether 1802 bleeding episodes had been registered with the following locations: elbow joint 21.0%, knee joint 17.9%, ankle 14.2%, shoulder 4.3%. In 5% of all cases multiple joints had been affected at the same time. Soft tissue bleedings occurred in 16.7% of all cases. For substitution treatment of these 1802 bleeding events altogether 9020 transfusion units were needed, appropriate to 40.4 per year and 52.4 per year and bleeding patient respectively. Expense and duration of treatment depend on the bleeding location. Conclusions for the clinics and the transfusion service are possible. 相似文献
6.
The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots. 总被引:16,自引:4,他引:12
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P M Green A J Montandon D R Bentley R Ljung I M Nilsson F Giannelli 《Nucleic acids research》1990,18(11):3227-3231
The mutations of 76 haemophilia B patients representing the whole population registered with the Malm? haemophilia centre (42) and referrals from the UK, were characterised. RFLP haplotype analysis of the defective genes indicated that 51 single base pair substitutions were definitely of independent origin and 27 of these were CpG----TpG or CpA transitions. This represents a 38-fold excess over other single-base changes. Most of such transitions (82%) occur at 9 CpG sites occupying critical positions (transitions at 3 sites substitute essential arginines, while at 6 sites transition to TpG creates stop codons). Sixteen of the 18 possible transitions at these 9 sites cause clear haemophilia B and should be fully ascertained in our haemophilia B population. This allowed the direct estimate of the rate of CpG transitions. This is 1.05 x 10(-7) substitutions per base per gamete per generation. The marked excess of CpG transitions in haemophilia B appears partly due to the high proportion of CpG sites at critical positions (at least 9 out of 20). We propose that this follows from the fact that male hemizygosity makes X-linked genes particularly susceptible to selective forces that tend to fix CpG sites arising at critical positions. 相似文献
7.
A Girolami R Dal Bo Zanon M Procidano 《Folia haematologica (Leipzig, Germany : 1928)》1981,108(6):863-871
In investigations made in 32 patients with haemophilia A and 28 patients with haemophilia B the possibility of utilizing the trypsin clotting time (K-test) was tested in diagnosing both diseases. 23 plasmas of healthy test persons were used as controls and revealed a mean value of the K-test amounting to 24.52 +/- 0.75 seconds. With a mean value amounting to 30.025 +/- 2.88 seconds the K-test was clearly and from a statistical point of view significantly prolonged in hemophilia B contrary to hemophilia A with a slight prolongation amounting to 26.95 +/- 2.03 seconds. Possible causes for the response of the trypsin clotting tie are discussed. 相似文献
8.
Hiroshi Ueno Yasukazu Muramatsu Bruno B. Chomel Tsutomu Hohdatsu Hiroyuki Koyama Chiharu Morita 《Microbiology and immunology》1995,39(5):339-341
A total of 199 domestic cat serum samples from 3 geographical areas (northeastern, central and southwestern) of Japan collected between 1992 to 1994 were examined for serum antibody against Bartonella henselae using an immunofluorescent assay. The antibody prevalence was 15.1% (30/199). A significant difference in the prevalence of B. henselae antibody was observed between the northeastern area (6.3%:3/48) and the central area (22.0%: 13/59) in Japan. There was no significant difference between the average age of seropositive cats (4.39 ±3.26 years) and that of seronegative cats (4.03 ±3.84 years), and also between the frequency of seropositive male cats (16.5%: 15/91) and that of seropositive female cats (11.8%:9/76). This is the first report of B. henselae antibodies in cats in Japan. 相似文献
9.
A five year survey of the treatment of patients in the United Kingdom suffering from haemophilia and related disorders was carried out on behalf of the directors of haemophilia centres. The survey showed an increase in the number of patients receiving treatment from the centres, a substantial increase in the total amount of therapeutic materials used, and an increase in the average amount of factor VIII or factor IX used yearly per patient. Home treatment became established for severely affected patients and accounted for roughly half of the total amount of material used. Study of the acquisition of factor VIII or factor IX antibodies (inhibitors) in patients with haemophilia A or haemophilia B showed no increase in antibodies during the survey period, despite the increased use of factor VIII and factor IX concentrates. The occurrence of acute hepatitis in treated patients was also studied and no increased incidence was observed. A near normal median expectation of life in patients with severe haemophilia A was found. 相似文献
10.
Adult animals from 2 herds were examined clinically and serologically, 5 (Herd A) and 4 (Herd B) times during the same period of 3% years. Serum samples were examined for antibodies against Gorynebac-terium pseudotuberculosis using the bacterial agglutination test (BAT) and the hemolysis inhibition test (HIT). The results of the first examination showed that no animal in Herd A was seropositive, while in Herd B 1 animal showed a high positive titre in BAT. The prevalence of animals with superficial swellings was then 2 % in Herd A and 4 % in Herd B. In both herds, the prevalence of animals with superficial swellings and seropositive reactions increased during the following 1–2 yeairs. About 30 % of animals had superficial lesions and close to 100 % were seropositive. The proportion, of animals with superficial swellings and seropositive reactions was almost constant on subsequent examinations. In some of the animals, superficial swellings were found during 2 or more of the examinations, a few animals having such lesions at the same site on both or all occasions. Animals in Herd A became infected through grazing together with goats from infected herds. Caseous lymphadenitis was introduced into Herd B by animals obtained from infected herds. 相似文献
11.
Fabbi M Vicari N Tranquillo M Pozzi C Prati P De Meneghi D Bertoletti I Lauzi S Guiso P Genchi C 《Parassitologia》2004,46(1-2):127-129
Bartonella henselae is the major etiological agent of Cat Scratch Disease in humans. Cats act as the natural reservoir of B. henselae and can transmit the infection to humans by bite or scratch. The diffusion of B. henselae was evaluated by seroprevalence and bacteremic status in different stray cat populations located in nine areas of Northern Italy. A total of 1585 cats were tested by blood culture and 361 (23%) resulted bacteremic; 1416 out off 1585 cats were also tested for Bartonella henselae antibodies and 553 (39%) resulted seropositive. The molecular typing of the isolates showed that 26% of bacteremic cats were infected with B. henselae type I, 52% with B. henselae type II, 16% were co-infected with both and 5% infected with B. Clarridgeiae. Moreover 165 domestic cats were tested by blood culture and serological test (IFA test cut-off: 1:64). 35 cats (21%) resulted bacteremic and 49 (43.5%) were seropositive. The molecular typing of the Bartonella isolates of the domestic cats showed that 45% of bacteremic cats were infected with B. henselae type I, 36.5% with B. henselae type II, 12% were coinfected with both and 6% infected with B. Clarridgeiae. For a completely evaluation of health status of the cat for B. henselae infection, the authors suggest both blood culture and serological tests. Nevertheless a nonbacteremic cat with positive serology result should be reevaluated for possible recurrent bacteremia. 相似文献
12.
ABSTRACT: BACKGROUND: Gastrointestinal and urinary tract pathogenic infections are aggravating the incidence and progression of the Human Immunodeficiency Virus (HIV) infection into Acquired Immune Deficiency Syndrome (AIDS) more especially in the developing countries. This study was conducted to assess the common gastrointestinal and urinary infections among HIV/AIDS patients at the Komfo Anokye Teaching Hospital (KATH) in Ghana between April and December 2008. FINDINGS: This work reports on gastrointestinal and urinary tract pathogenic infections among 500 HIV seropositive and 300 HIV seronegative patients. There was a 35% (175/500) prevalence of intestinal parasites among HIV seropositive patients compared to 4.3% (13/300) in HIV seronegative patients. Giardia lamblia and Cryptosporidium accounted for 19% (95/500) and 14% (70/500) respectively, while Schistosoma mansoni, Strongyloides stercoralis and hookworm together accounted for 2% (10/500) of intestinal parasitic infections among the HIV seropositive patients. There was no significant difference (p > 0.05) in urinary parasitic infection between HIV seropositive 1% (2/500) and seronegative patients 0.7% (2/300). Most, 60 (86%) out of 70, of the urinary tract infection among the HIV seropositive patients was due to bacteria with E. coli being the most predominant isolate, 28 (47%) out of 60. There was no significant difference in infections based on age and gender. CONCLUSION: G. lamblia and Cryptosporidium were the most common gastrointestinal parasites detected while bacteria accounted for majority of the urinary tract infections among the HIV seropositive patients at the hospital. 相似文献
13.
Data on home treatment for patients with haemophilia A (factor VIII deficient haemophilia) were compiled for 1975 and 1976 from questionnaires answered by directors of haemophilia centres throughout the United Kingdom. There were 48 haemophilia centres in 1975 and 71 in 1976. The number of patients on or in training for home treatment increased from 267 to 488 in the two years, and a further 241 haemophiliacs were considered suitable for home therapy by the end of 1976. Apart from a small (but increasing) number of haemophiliacs on prophylactic treatment, most patients were on low-dose (250-500 units) on-demand regimens, using a mean of 20 000 factor VIII units per patient per year in 1976. An estimated 55% of the blood product used for home therapy in the UK in 1976 was imported from commercial sources. Despite the fact that the numbers of patients on home treatment have increased, so that about 60% of the potential population were receiving or being considered for home treatment in 1976, inadequacies in the service still remain. In some centres follow-up is clearly inadequate; about 15% of patients still rely on cryoprecipitate; and too little money has been invested in making the NHS self-sufficient in factor VIII production. 相似文献
14.
G Rezza F Titti P Pezzotti L Sernicola S Lo Caputo G Angarano A Lazzarin A Sinicco G B Rossi P Verani 《Journal of biological regulators and homeostatic agents》1992,6(1):15-20
A cross-sectional and retrospective longitudinal study has been conducted in three Italian infectious disease centres to evaluate the role of anti-nef antibodies and other markers (HIV-1 p24 antigen, p24 Ag; Beta 2-microglobulin, B2-M; and number of CD4+ lymphocytes) as predictors of disease progression in HIV seropositive injecting drug users (IDUs). The selected patients were: 1) HIV-seropositive IDUs in different stages of HIV infection; 2) HIV-seropositive IDUs who had developed AIDS, from whom serial serum samples were available during the asymptomatic stage, and 3) HIV seropositive IDUs who remained asymptomatic through a follow-up period of the same duration as the patients who developed AIDS. Absence of anti-nef antibodies was associated with symptomatic HIV infection. A significant association between the absence of anti-nef antibodies, the presence of p24 Ag, high levels of B2-M, a number of CD4+ lymphocytes less than 500/ml at first visit and disease progression was found. Subjects who were persistently positive for antibody to nef were less likely to develop AIDS than those who were transiently or persistently negative. This difference was statistically significant (p = 0.03). The results of this study show that absence or disappearance of anti-nef antibodies may be used as predictor of disease evolution in HIV seropositive IDUs. This study also confirms the usefulness of other markers, such as p24 Ag, B2-M and number of CD4+ lymphocytes previously shown to be predictive of rapid disease progression for predicting the course of HIV seropositive IDUs. 相似文献
15.
Kikuchi E Maruyama S Sakai T Tanaka S Yamaguchi F Hagiwara T Katsube Y Mikami T 《Microbiology and immunology》2002,46(5):313-316
Seroprevalence of Bartonella henselae was investigated in Japan in 48 individuals clinically suspected of having cat-scratch disease (CSD), 159 patients with cardiovascular diseases, and 129 healthy veterinary students. Of 48 CSD-suspected patients examined, 19 (39.6%) were positive for B. henselae-IgG and 4 (8.3%) for B. henselae-IgM. Of 159 patients with cardiovascular diseases, 5 (3.1%) were positive for B. henselae-IgG. In healthy veterinary students, 14 of 129 (10.9%) were positive for B. henselae-IgG and 1 (0.8%) for B. henselae-IgM. The positive rates of B. henselae-IgG and -IgM in CSD-suspected patients were significantly higher than in other sources. Most CSD-suspected and healthy individuals who were positive for B. henselae antibody had had some contacts with cats. In CSD-suspected patients, the B. henselae positive rate in females was significantly higher than in males, and high seropositive rates to B. henselae were found in younger age groups. 相似文献
16.
Gabriel Westman Anna-Karin Lidehall Peetra Magnusson Martin Ingelsson Lena Kilander Lars Lannfelt Olle Korsgren Britt-Marie Eriksson 《PloS one》2013,8(10)
Cytomegalovirus (CMV) has been suggested as a contributing force behind the impaired immune responsiveness in the elderly, with decreased numbers of naïve T-cells and an increased proportion of effector T-cells. Immunological impairment is also implicated as a part of the pathogenesis in Alzheimer’s disease (AD). The aim of this study was to investigate whether AD patients present with a different CMV-specific CD8 immune profile compared to non-demented controls. Blood samples from 50 AD patients and 50 age-matched controls were analysed for HLA-type, CMV serostatus and systemic inflammatory biomarkers. Using multi-colour flow cytometry, lymphocytes from peripheral blood mononuclear cells were analysed for CMV-specific CD8 immunity with MHC-I tetramers A01, A02, A24, B07, B08 and B35 and further classified using CD27, CD28, CD45RA and CCR7 antibodies. Among CMV seropositive subjects, patients with AD had significantly lower proportions of CMV-specific CD8 T-cells compared to controls, 1.16 % vs. 4.13 % (p=0.0057). Regardless of dementia status, CMV seropositive subjects presented with a lower proportion of naïve CD8 cells and a higher proportion of effector CD8 cells compared to seronegative subjects. Interestingly, patients with AD showed a decreased proportion of CMV-specific CD8 cells but no difference in general CD8 differentiation. 相似文献
17.
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. 总被引:3,自引:0,他引:3
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F Giannelli P M Green S S Sommer D P Lillicrap M Ludwig R Schwaab P H Reitsma M Goossens A Yoshioka G G Brownlee 《Nucleic acids research》1994,22(17):3534-3546
The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of < 30bp) identified in haemophilia B patients. The 1,142 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated. 相似文献
18.
Haemophilia B: database of point mutations and short additions and deletions--eighth edition. 总被引:8,自引:1,他引:7
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F Giannelli P M Green S S Sommer M Poon M Ludwig R Schwaab P H Reitsma M Goossens A Yoshioka M S Figueiredo G G Brownlee 《Nucleic acids research》1998,26(1):265-268
The eighth edition of the haemophilia B database (http://www.umds.ac. uk/molgen/haemBdatabase.htm ) lists in an easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1713 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated. 相似文献
19.
Haemophilia B: database of point mutations and short additions and deletions, 7th edition. 总被引:1,自引:0,他引:1
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F Giannelli P M Green S S Sommer M C Poon M Ludwig R Schwaab P H Reitsma M Goossens A Yoshioka M S Figueiredo G G Brownlee 《Nucleic acids research》1997,25(1):133-135
The seventh edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1535 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated. 相似文献
20.
S I Kozlova A N Prytkov V L Izhevskaia G M Abdullaev Z I Efendiev R N Khametova 《Genetika》1989,25(11):2090-2095
The results of the clinico-genealogical investigation of patients with mild haemophilia A in a large azerbaijanian highly inbred kindred (446 members in VII generations) are presented. Some peculiarities of the disease segregation are discussed. The prevalence of the haemophilia A in the population examined was estimated as about 1:440. 相似文献