2 resultados para mutation of homomorphism

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Objectives: To contribute to current knowledge on the vascular risk of oestrogens. Materials and methods: A 44-year-old woman received a 11.25 mg Leuprolide exteneded release injection to control bleeding from a 7 cm uterine fibroid tumour; 45 days later, she had a stroke due to right frontal lobe ischaemia. Thrombolysis induced complete remission. Three years previously, while taking a birth control pill, the patient had suffered from a stroke that involved her left temporal lobe. She was heterozygous for Factor V R2 H1299R locus and homozygous for the 4G/4G mutation of the PAI-1 gene. Even though her homocysteine level was normal, the patient was homozygous for the MTHFR C677T mutation and although she had never had severe bleeding, she was also homozygous for Factor XIII V34L. Results and conclusion: This patient’s prothrombotic condition could have been enhanced by leuprolide since its stimulatory effect on oestrogen production would still have been minimally present at the time of cerebral thrombosis.

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Introduction: Pulmonary alveolar proteinosis (PAP) is a rare disease, associated with excess accumulation of surfactant proteins and lipids in the alveoli. Clinical presentation: We report the case of a 46-year-old woman with a combined presentation of PAP, myelodysplasia and recurrent miscarriages. Conclusions: The concomitant presentation of the above might be compatible with a mutation of the haematopoietic transcription factor gene GATA2.