The Experts below are selected from a list of 303 Experts worldwide ranked by ideXlab platform
Jürgen Horst - One of the best experts on this subject based on the ideXlab platform.
-
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Human Mutation, 2001Co-Authors: Nadja Bogdanova, Beate Lemcke, Arseni Markoff, Hartmut Pollmann, Bernd Dworniczak, Antonin Eigel, Jürgen HorstAbstract:Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe Hemophilia A. Point mutations and small deletions/insertions are responsible for the majority of cases with moderate to mild clinical course and for half of the severe Hemophilia A occurrences. The majority of these mutations are "private", because of the high mutation rate for this particular gene. We report on eleven pathological changes in the factor VIII sequence detected in male patients with haemophilia A or in female obligate carriers. Seven of these mutations are novel [E204N, E265X, M320T, F436C, S535C, N2129M and R2307P] and four have been previously identified [V162M, R527W, R1966X, and R2159C]. Genotype-phenotype correlations and computer prediction analysis on the effect of missense mutations on the secondary structure of the factor VIII protein are performed and the relationships evaluated.
-
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Human Mutation, 2001Co-Authors: Nadja Bogdanova, Beate Lemcke, Arseni Markoff, Hartmut Pollmann, Bernd Dworniczak, Antonin Eigel, Jürgen HorstAbstract:Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe Hemophilia A. Point mutations and small deletions/insertions are responsible for the majority of cases with moderate to mild clinical course and for half of the severe Hemophilia A occurrences. The majority of these mutations are “private”, because of the high mutation rate for this particular gene. We report on eleven pathological changes in the factor VIII sequence detected in male patients with haemophilia A or in female obligate carriers. Seven of these mutations are novel [ E204N, E265X, M320T, F436C, S535C, N2129M and R2307P] ] and four have been previously identified [ V162M, R527W, R1966X, and R2159C] ] . Genotype-pheno type correlations and computer prediction analysis on the effect of missense mutations on the secondary structure of the factor VIII protein are performed and the relationships evaluated. © 2001 Wiley-Liss, Inc.
Bernhard F Morrey - One of the best experts on this subject based on the ideXlab platform.
-
hemophilic arthropathy of the elbow treated by total elbow replacement
Journal of Bone and Joint Surgery American Volume, 2004Co-Authors: Srinath Kamineni, Robert A Adams, Shawn W Odriscoll, Bernhard F MorreyAbstract:Hemophilic arthropathy most commonly affects the knee, with the elbow being the second most frequently involved joint1. The recurrent intra-articular hemorrhages that cause this form of inflammatory arthropathy are a feature of severe Hemophilia in which <1% of the normal clotting factor titers are present. Whereas total joint replacement is a well-documented treatment for hemophilic hip and knee arthropathy2-5, there are very few reports of total elbow replacements in patients with Hemophilia. Possible reasons for this lack of published data include (1) the predominant and successful medical management of most patients with Hemophilia, (2) less functional impairment of the elbow compared with the hip and knee in hemophilic arthropathy, and (3) the more recent successful evolution of total elbow arthroplasty compared with the more established hip and knee arthroplasties. Our aim is to share our experience with total elbow arthroplasty in patients with hemophilic arthropathy and to review the cases reported in the literature. We retrospectively reviewed the records on 3100 patients with Hemophilia who had presented to our institution and on 1358 total elbow replacements performed at our institution between 1979 and 2001. Five patients had had total elbow replacement for the treatment of hemophilic arthropathy (Table I), and we further analyzed those cases. View this table: TABLE I Data on Five Patients with Hemophilia and a Total Elbow Arthroplasty The mean age of the five patients was thirty-nine years (range, twenty-five to fifty-eight years). The elbow on the dominant side was involved in one patient, the elbow on the nondominant side was involved in one patient, and both elbows were involved in three patients. The primary hematological abnormality was Hemophilia A (factor-VIII deficiency) in two patients and Hemophilia A and B (factor-VIII and IX deficiency), Hemophilia C (von Willebrand disease), and Hemophilia A with factor-VIII inhibitor in …
-
Hemophilic Arthropathy of the Elbow Treated by Total Elbow Replacement
Journal of Bone and Joint Surgery American Volume, 2004Co-Authors: Srinath Kamineni, Robert A Adams, Shawn W. O'driscoll, Bernhard F MorreyAbstract:Hemophilic arthropathy most commonly affects the knee, with the elbow being the second most frequently involved joint1. The recurrent intra-articular hemorrhages that cause this form of inflammatory arthropathy are a feature of severe Hemophilia in which
Nadja Bogdanova - One of the best experts on this subject based on the ideXlab platform.
-
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Human Mutation, 2001Co-Authors: Nadja Bogdanova, Beate Lemcke, Arseni Markoff, Hartmut Pollmann, Bernd Dworniczak, Antonin Eigel, Jürgen HorstAbstract:Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe Hemophilia A. Point mutations and small deletions/insertions are responsible for the majority of cases with moderate to mild clinical course and for half of the severe Hemophilia A occurrences. The majority of these mutations are "private", because of the high mutation rate for this particular gene. We report on eleven pathological changes in the factor VIII sequence detected in male patients with haemophilia A or in female obligate carriers. Seven of these mutations are novel [E204N, E265X, M320T, F436C, S535C, N2129M and R2307P] and four have been previously identified [V162M, R527W, R1966X, and R2159C]. Genotype-phenotype correlations and computer prediction analysis on the effect of missense mutations on the secondary structure of the factor VIII protein are performed and the relationships evaluated.
-
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
Human Mutation, 2001Co-Authors: Nadja Bogdanova, Beate Lemcke, Arseni Markoff, Hartmut Pollmann, Bernd Dworniczak, Antonin Eigel, Jürgen HorstAbstract:Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe Hemophilia A. Point mutations and small deletions/insertions are responsible for the majority of cases with moderate to mild clinical course and for half of the severe Hemophilia A occurrences. The majority of these mutations are “private”, because of the high mutation rate for this particular gene. We report on eleven pathological changes in the factor VIII sequence detected in male patients with haemophilia A or in female obligate carriers. Seven of these mutations are novel [ E204N, E265X, M320T, F436C, S535C, N2129M and R2307P] ] and four have been previously identified [ V162M, R527W, R1966X, and R2159C] ] . Genotype-pheno type correlations and computer prediction analysis on the effect of missense mutations on the secondary structure of the factor VIII protein are performed and the relationships evaluated. © 2001 Wiley-Liss, Inc.
Giancarlo Castaman - One of the best experts on this subject based on the ideXlab platform.
-
The higher prevalence of missense mutations in Hemophilia B compared to Hemophilia A could be important in determining a milder clinical phenotype in patients with severe Hemophilia B
Haematologica, 2016Co-Authors: Daniela Melchiorre, Silvia Linari, Giancarlo CastamanAbstract:We thank Shetty et al.,1 for their comments about the relationship between the type of mutation and clinical phenotype in Hemophilia. As clearly mentioned in our manuscript,2 the higher prevalence of missense mutations in Hemophilia B compared to Hemophilia A could be one of the most important factors possibly contributing to a milder clinical phenotype in patients with severe Hemophilia B. Because the percentage of patients with missense mutations in Hemophilia B may be as high as 60–70%,3 as in our population (62% compared to 32% in Hemophilia A), and because of the significantly lower incidence of Hemophilia B than Hemophilia A, comparing patients with null mutations between the two disorders would be very difficult, unless very large multicenter studies are undertaken.
-
clinical instrumental serological and histological findings suggest that Hemophilia b may be less severe than Hemophilia a
Haematologica, 2016Co-Authors: D Melchiorre, Mirko Manetti, Silvia Linari, Eloisa Romano, Francesco Sofi, Marco Matuccicerinic, Christian Carulli, Massimo Innocenti, Lidia Ibbamanneschi, Giancarlo CastamanAbstract:Recent evidence suggests that patients with severe Hemophilia B may have a less severe disease compared to severe Hemophilia A. To investigate clinical, radiological, laboratory and histological differences in the arthropathy of severe Hemophilia A and Hemophilia B, 70 patients with Hemophilia A and 35 with Hemophilia B with at least one joint bleeding were consecutively enrolled. Joint bleedings ( 50), regimen of treatment (prophylaxis/on demand), World Federation of Hemophilia, Pettersson and ultrasound scores, serum soluble RANK ligand and osteoprotegerin were assessed in all patients. RANK, RANK ligand and osteoprotegerin expression was evaluated in synovial tissue from 18 Hemophilia A and 4 Hemophilia B patients. The percentage of patients with either 10-50 or more than 50 hemarthrosis was greater in Hemophilia A than in Hemophilia B (P<0.001 and P=0.03, respectively), while that with less than 10 hemarthrosis was higher in Hemophilia B (P<0.0001). World Federation of Hemophilia (36.6 vs. 20.2; P<0.0001) and ultrasound (10.9 vs. 4.3; P<0.0001) score mean values were significantly higher in Hemophilia A patients. Serum osteoprotegerin and soluble RANK ligand were decreased in Hemophilia A versus Hemophilia B (P<0.0001 and P=0.006, respectively). Osteoprotegerin expression was markedly reduced in synovial tissue from Hemophilia A patients. In conclusion, the reduced number of hemarthrosis, the lower World Federation of Hemophilia and ultrasound scores, and higher osteoprotegerin expression in serum and synovial tissue in Hemophilia B suggest that Hemophilia B is a less severe disease than Hemophilia A. Osteoprotegerin reduction seems to play a pivotal role in the progression of arthropathy in Hemophilia A.
-
Clinical, instrumental, serological and histological findings suggest that Hemophilia B may be less severe than Hemophilia A
Haematologica, 2015Co-Authors: Daniela Melchiorre, Mirko Manetti, Silvia Linari, Eloisa Romano, Francesco Sofi, Christian Carulli, Massimo Innocenti, Marco Matucci-cerinic, Lidia Ibba-manneschi, Giancarlo CastamanAbstract:Recent evidence suggests that patients with severe Hemophilia B may have a less severe disease compared to severe Hemophilia A. To investigate clinical, radiological, laboratory and histological differences in the arthropathy of severe Hemophilia A and Hemophilia B, 70 patients with Hemophilia A and 35 with Hemophilia B with at least one joint bleeding were consecutively enrolled. Joint bleedings ( 50), regimen of treatment (prophylaxis/on demand), World Federation of Hemophilia, Pettersson and ultrasound scores, serum soluble RANK ligand and osteoprotegerin were assessed in all patients. RANK, RANK ligand and osteoprotegerin expression was evaluated in synovial tissue from 18 Hemophilia A and 4 Hemophilia B patients. The percentage of patients with either 10-50 or more than 50 hemarthrosis was greater in Hemophilia A than in Hemophilia B (P
Jacques Bejui-hugues - One of the best experts on this subject based on the ideXlab platform.
-
Early to mid-term results of total knee arthroplasty in hemophilic knees: a review of 34 cases
Haemophilia, 2008Co-Authors: P. Bovier Lapierre, Olivier Guyen, Hervé Chavane, A. Lienhart, Jean-paul Carret, Jacques Bejui-huguesAbstract:Total knee arthroplasty (TKA) in hemophilic knees is getting renewed attention as both surgical techniques ans implants and medical management of Hemophilia have improved.