Cases reported "Thrombasthenia"

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1/10. Recombinant activated factor vii combined with local measures in preventing bleeding from invasive dental procedures in patients with Glanzmann thrombasthenia.

    Recombinant activated factor vii (rFVIIa), combined with local measures of fibrin glue and a celluloid splint, preventing bleeding from four invasive dental procedures is reported. A single dose of 180-200 micro g/kg was successfully used in three surgical removals of impacted teeth. Four doses of rFVIIa were required in another full mouth treatment of extraction, pulpotomy, filling and the stainless steel crowning of 13 teeth. The repeated dose of rFVIIa was given whenever the bleeding complication was visualized. It is cost-effective for preventing external bleeding. Additionally, an oral rinsing solution of tranexamic acid (25 mg/kg) was given three times a day for 7 days. In conclusion, rFVIIa has been shown to be an effective alternative to platelet concentrate in patients with Glanzmann thrombasthenia.
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keywords = dental
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2/10. A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia.

    This work reports the study of a patient suffering a bleeding disorder clinically diagnosed as Glanzmann's thrombasthenia (GT). immunoblotting and flow cytometric analysis showed a low (mutation alters the consensus sequence of the splice donor site of intron 1 changing arginine 63 for lysine (R63K). No other mutation than [G188A]GPIIb was found in the proband and her parents after complete analysis of GPIIb and GPIIIa coding sequences, and the promoter, 3'-UTR, and intronic flanking regions of GPIIb. The GT phenotype of the proband is the result of a limited availability of GPIIb-mRNA. The etiopathogenic role of the [G188A]GPIIb mutation is supported by the following observations: (i) both parents, who are heterozygous for the [G188A]GPIIb mutation, show a marked decrease in the platelet content of GPIIb-mRNA; (ii) exontrap analysis demonstrated that the G188A mutation leads to a marked reduction in the steady-state level of GPIIb-mRNA. The reduced availability of platelet GPIIb-mRNA associated with the G188A mutation seems to be caused by either inefficient rna splicing or a preferred utilization of alternative intronic donor sites that generate an in-frame STOP codon with the result of activation of nonsense-mediated mRNA decay, or both.
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ranking = 108.80774353175
keywords = decay
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3/10. Surgical and clinical management of a patient with Glanzmann thrombasthenia: a case report.

    A 6-year-old girl with Glanzmann thrombasthenia presented with caries and periapical lesions in the primary mandibular second molars and moderate gingivitis of the maxillary and mandibular anterior teeth. Dental extraction was recommended, and before every surgical intervention, the patient underwent platelet-concentrate transfusion to prevent hemorrhage. Epsilon aminocaproic acid was administered 6 hours before, and 48 hours after every dental procedure to prevent bleeding. In this case, treatment was effective in the prevention of hemorrhagic complications, during the required dental procedures.
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4/10. Type I Glanzmann thrombasthenia caused by an apparently silent beta3 mutation that results in aberrant splicing and reduced beta3 mRNA.

    We report a novel genetic defect in a patient with type I Glanzmann thrombasthenia. flow cytometry analysis revealed undetectable levels of platelet glycoproteins alphaIIb and beta3, although residual amounts of both proteins were detectable in immunoblotting analysis. sequence analysis of reversely transcribed platelet beta3 mRNA showed a 100-base pair deletion in the 3'-boundary of exon 11, that results in a frame shift and appearance of a premature STOP codon. Analysis of the corresponding genomic dna fragment revealed the presence of a homozygous C1815T transition in exon 11. The mutation does not change the amino acid residue but it creates an ectopic consensus splice donor site that is used preferentially, causing splicing out of part of exon 11. The parents of the proband, heterozygous for this mutation, were asymptomatic and had reduced platelet content of alphaIIbbeta3. PCR-based relative quantification of beta3 mRNA failed to detect the mutant transcript in the parents and showed a marked reduction in the patient. The results suggest that the thrombasthenic phenotype is, mainly, the result of the reduced availability of beta3-mRNA, most probably due to activation of the nonsense-mediated mRNA decay mechanism. They also show the convenience of analyzing both genomic dna and mRNA, in order to ascertain the functional consequences of single nucleotide substitutions.
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ranking = 21.76154870635
keywords = decay
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5/10. A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.

    The absence of agonist-induced platelet aggregation and the lack of fibrinogen receptor (GPIIb/IIIa) on the platelet surface demonstrated that the severe hemorrhagic complications of a child of Romany descent were caused by Glanzmann thrombasthenia. dna sequencing revealed a novel homozygous deletion of a cytosine (1619delC) in the GPIIb gene causing a frameshift and predicting a novel stop codon at position 533 following 24 altered amino acids. Both parents possessed the same deletion in heterozygous form. The amount of GPIIb mRNA in the patient's platelets was 0.06% of the amount measured in control platelets. Neither GPIIb nor its truncated form could be detected in the platelets of the patient by Western blotting, while a small amount of GPIIIa was demonstrated. Quantitative flowcytometric analysis showed an elevated number of vitronectin receptors, a component of which is GPIIIa, on the patient's platelets. The surface expression of vitronectin receptor on thrombasthenic, but not on normal platelets was further increased by activation with thrombin receptor agonist peptide. BHK cells transfected with wild type GPIIIa andmutated GPIIb failed to express any mature GPIIb or pro-GPIIb. immunoprecipitation with a polyclonal antibody recognizing both GPIIb and GPIIIa recovered a 60 kDa truncated form of GPIIb. This band was absent when immunoprecipitation was carried out with an antibody recognizing GPIIIa, suggesting that the truncated protein, lacking calf-1, calf-2 domains and major part of the thigh domain, is unable to form complex with GPIIIa.
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ranking = 87.046194825401
keywords = decay
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6/10. Case report: Glanzmann thrombasthenia. Dental patient management for a rare platelet disorder.

    With today's medically complex population of ambulatory patients, it is essential that the dental clinician possess a working knowledge of those medical issues that may impact a practice. This is most critical in those patients who present with a bleeding risk. Acquiring a thorough history with necessary medical information and possessing a basic knowledge of bleeding disorders will guide the clinician in deciding whether to treat or to make an appropriate referral.
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7/10. Recombinant activated factor vii combined with desmopressin in preventing bleeding from dental extraction in a patient with Glanzmann's thrombasthenia.

    The case of a 41-year-old woman with Glanzmann's thrombasthenia who underwent double dental extraction is presented. In the past, treatments with desmopressin (DDAVP) and tranexamic acid had often unsuccessful efficacy to stop or decrease bleeding. After ineffective DDAVP administration, the removal was performed successfully with recombinant activated factor vii (rFVIIa) infusion. rFVIIa infusion after DDAVP administration could be useful in patients with Glanzmann's thrombasthenia in which DDAVP and tranexamic acid weren't always effective.
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8/10. Multiple dental extractions in a child with Glanzmann's thrombasthenia: report of case.

    patients with Glanzmann's thrombasthenia have a tendency to hemorrhage. This report shows evidence, however, that extractions in children with the disease can be accomplished without supplemental therapy.
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keywords = dental
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9/10. Dental considerations for a Glanzmann's thrombasthenia patient: case report.

    Glanzmann's thrombasthenia is a qualitative platelet disorder characterized by a deficiency in the platelet membrane glycoproteins (GP) IIb-IIIa. It belongs to a group of hereditary platelet disorders typified by normal platelet numbers and a prolonged bleeding time. The bleeding seen in Glanzmann's thrombasthenia usually includes bruising, epistaxis, gingival hemorrhage, and menorrhagia. Spontaneous, unprovoked bleeding is unusual. The severity of bleeding is unpredictable in thrombasthenia and does not correlate with the severity of the platelet GP IIb-IIIa abnormality. The present case report describes the dental treatment of a patient with Glanzmann's thrombasthenia. A 39-year-old female with a history of Glanzmann's thrombasthenia presented for periodontal therapy for spontaneous gingival hemorrhage. The patient had been sporadically seen in the past and had a record of only returning for appointments on an "emergency" basis. The periodontal findings revealed a diagnosis of moderate to advanced adult periodontitis in all quadrants. After all dental options had been discussed, the treatment of choice was determined to be extraction of the remaining dentition and fabrication of immediate dentures. The patient received a loading dose of 5 grams of aminocaproic acid (EACA) intravenously 3 hours prior to the surgery. At the beginning of the extractions 1 gram of EACA per hour continuous infusion and a 6 pack of platelets was administered. The patient tolerated the extractions well. All sites healed normally. The patient has had no difficulty in adjusting to the dentures. The case report discusses a possible treatment option in a noncompliant patient having Glanzmann's thrombasthenia and briefly discusses other hereditary bleeding disorders with similar presentations.
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keywords = dental
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10/10. platelet transfusion in a patient affected by Glanzmann's thrombasthenia with antibodies against GPIIb-IIIa.

    patients affected by Glanzmann's thrombasthenia often require blood and platelet transfusions due to bleeding. They may develop antibodies against platelet antigens and become refractory to platelet transfusions. In this study we present our approach to platelet transfusion in a thrombasthenic patient with platelet antibodies directed against gpIIb/IIIa. We found that platelets from two HPA1b/b donors were weakly positive when matched with the patient's serum. The patient was submitted to dental surgery and platelets were transfused before and after surgery to prevent bleeding. The patient did not experience transfusion reaction and good platelet recovery was observed.
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keywords = dental
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