1/75. Remission of progressive multifocal leukoencephalopathy following highly active antiretroviral therapy in a patient with hiv infection.Progressive multifocal leukoencephalopathy (PML) is a demyelinating disease resulting from lytic infection of oligodendrocytes by the papovavirus JC (JCV). PML has also been recognized as an AIDS-defining illness. The incidence of PML has increased since 1987 and it occurs in up to 4% of patients with AIDS. To date, there is no treatment available for PML and it usually results in death within 3-6 months of diagnosis. However, there are some reports of remission of PML after antiretroviral therapy. We report a 12-year-old child with hemophilia b and developing AIDS with the onset of PML. With highly active antiretroviral therapy, PML subsided with an increase of CD4 count from 10 to 300/microl in spite of about 1.0 X 10(4) human immunodeficiency virus (hiv)-1-rna copies. He has survived more than 1 year without specific therapy against JCV. Highly active antiretroviral therapy appears to have improved his prognosis in hiv-associated PML.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/75. Hemorrhagic lymphadenopathy as a presenting feature of primary al amyloidosis.Lymphadenopathy associated with hemorrhage as a presenting feature of primary (AL) amyloidosis has not previously been described. We report two such cases one of whom had an acquired factor x and IX deficiency. The clinical presentations were characterized by sudden spontaneous enlargement of lymph nodes followed by partial regression. In both cases significant delay in diagnosis, and hence treatment, occurred due to the mode of presentation. One patient died with rapidly progressive disease but the other has had an excellent response to therapy with high-dose melphalan (HDM, 200 mg/m2) and peripheral blood stem cell rescue. AL amyloid should be considered in all patients presenting with hemorrhagic lymphadenopathy.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
3/75. Hemorrhagic diathesis in a carrier of hemophilia b.A carrier of hemophilia b was found to have an unusually low factor ix level of 13 per cent. Her history of previous bleeding and the hospital course following elective dental extractions were consistent with a mild hemorrhagic diathesis. The patient is a member of a rare kindred of hemophiliacs. The mean level of factor ix in 12 carriers in this kindred was 42 per cent, with a range of 13 to 100 per cent. This patient represents the sixth reported case in which a female carrier of factor ix deficiency was symptomatic.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
4/75. Haemophilia B in a female caused by skewed inactivation of the normal X-chromosome.hemophilia b (factor ix deficiency) is an X-linked recessive disorder with a prevalence of 1:30,000 male births, which rarely affects females. A missense mutation T38R (6488C>G) of the factor ix (FIX) gene was characterized in a young female with moderate-to-severe hemophilia b. She is heterozygous for this mutation, which she inherited from her carrier mother. Analysis of the methyl-sensitive HpaII sites in the first exon of the human androgen-receptor locus indicated a de novo skewed X-chromosomal inactivation. This indicates that the paternal X-chromosome carrying her normal FIX gene is the inactive one, which has led to the phenotypic expression of hemophilia b in this patient.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
5/75. Combined deficiency of factors II, VII, IX, and X (Borgschulte-Grigsby deficiency) in pregnancy.BACKGROUND: Combined deficiency of vitamin k-dependent coagulation factors (II, VII, IX, X) is an uncommon challenge for the expectant gravida. CASE: A 34-year-old primigravida had congenital combined deficiency of factors II, VII, IX, and X that were incompletely sensitive to vitamin k. She had an altered form of vitamin k-dependent factors that retained immunologic activity but lacked coagulant activity and the normal complement of gamma-carboxyglutamic acid residues. She required vitamin k supplementation throughout her life. After an uneventful pregnancy she had postpartum hemorrhage resulting from an episiotomy. Fresh frozen plasma was administered to achieve hemostasis. The remainder of her postpartum course was normal. CONCLUSION: Combined congenital deficiency of factors II, VII, IX, and X can be managed in pregnancy with the use of vitamin k and fresh frozen plasma.- - - - - - - - - - ranking = 11keywords = deficiency (Clic here for more details about this article) |
6/75. Coincidence of cytomegalovirus retinitis and central retinal vein occlusion in a patient with hemophilia b and AIDS.A 37-year-old man with hemophilia b, acquired immunodeficiency syndrome, and a unilateral cytomegalovirus retinitis developed a central retinal vein occlusion. This vascular complication occurred despite effective antiviral drug treatment with improvement of the fundus and despite decreased blood coagulability due to hemophilia b. Additional analyses of thrombophilic parameters did not reveal hints of systemic thrombophilia, suggesting that toxic and inflammatory effects of cytomegalovirus itself were responsible for the ophthalmologic aggravation.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
7/75. Deletion of the factor ix gene as a result of translocation t(X;1) in a girl affected by haemophilia B.A balanced de novo translocation t(X;1) is described in a girl with severe haemophilia B. The translocated X was shown cytologically to be preferentially active, and methylation analysis of the DXS255 locus confirmed the skewed X-inactivation with the paternal allele being the active one. Cytogenetic and molecular analysis showed that this chromosomal rearrangement led to the deletion of at least part of the factor ix gene. Therefore, the girl was heterozygous for factor ix deficiency and expression of her clinical phenotype was the result of the inactivation of the normal maternal x chromosome. The localization of one of the x chromosome translocation breakpoints in YAC clone 957F9, that was demonstrated to map distally to the factor ix gene, revealed the complexity of this chromosomal rearrangement.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
8/75. Combined factor viii and IX deficiency in a family.A family with combined deficiency of factor viii and factor ix is reported. family study showed that the father and his nephew had mild factor viii deficiency with normal von willebrand factor antigen and factor ix levels while his two sons had a reduced level of factor ix and normal factor viii levels. His wife was found to have marginally reduced factor ix levels, whereas his daughter had reduced or normal levels of both factors VIII and IX. dna analysis using the intra- and extragenic markers of factor viii and IX genes showed that mother is a carrier of haemophilia B and the daughter is a carrier for both haemophilia A and B. Thus, the combined deficiency observed was due to a chance association of two distinct genetic defects.- - - - - - - - - - ranking = 7keywords = deficiency (Clic here for more details about this article) |
9/75. Bacterial endocarditis in a child with haemophilia B: risks of central venous catheters.The use of central venous catheters may be complicated by thrombosis and infection. We report a case of a needle-phobic 5-year-old boy with factor ix deficiency, in whom a portacath was inserted owing to poor compliance with prophylactic treatment. Within a week, he developed a staphylococcus aureus line infection that was treated with a 2-week course of intravenous antibiotics. One month later he presented with nonspecific symptoms and blood cultures again grew S. aureus. An echocardiogram revealed a large vegetation adherent to the tricuspid valve, confirming the diagnosis of bacterial endocarditis. His clinical course was further complicated by the development of pulmonary emboli. Medical treatment with intravenous antibiotics led to a successful resolution of the endocarditis and pulmonary emboli with a favourable long-term outcome.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
10/75. Haemorrhage in upper cervical cord: an unusual manifestation in moderate haemophilia patients who ride motorbikes.A young asymptomatic patient, with moderate haemophilia due to factor ix deficiency, developed symptoms of upper cord compression caused by a haemorrhage 12 hours after riding a motorcycle on a poorly maintained road. This led to quadriparesis with respiratory paralysis. In spite of neurosurgical intervention and intensive management with respirator therapy, the patient died 13 days after the incident from pneumonia and multi-organ failure. This is a very rare presentation of moderate haemophilia with serious consequences and has not to our knowledge, previously been reported in the English literature.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
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