Myophosphorylase deficiency (McArdle disease) in a patient with normal pregnancy and normal pregnancy outcome
نویسندگان
چکیده
منابع مشابه
Normal pregnancy and successful delivery in myophosphorylase deficiency (McArdle's disease).
The progress in pregnancy of a female with myophosphorylase deficiency (McArdle's disease) is described. In spite of the increased muscular effort expended, both pregnancy and labour were normal and the muscle symptoms unchanged, suggesting that compensatory mechanisms might have operated. These possible mechanisms are discussed. Women suffering from the myopathy need not expect any deteriorati...
متن کاملInvestigation of ANP Plasma Concentration in Normal Pregnancy and Preeclampsia
با وجود شواهد روزافزونی که بیانگر نقش احتمالی ANP در هموستاز طبیعی مایعات بدن است، اما هنوز اهمیت نقش این پیتید در سلامت و بیماری بدرستی مشخص نیست. بر اثر ازدیاد فشار دهلیزی و تعداد انقباضات آن، ANP از میوسیت های دهلیزی ترشح می شود. تزریق مقادیر زیادی از ANP صناعی به انسان و حیوان سبب کاهش فشار سیستمیک دهلیزی و افزایش دفع سدیم و برقراری دیورز می گردد. مطالعات اخیر بر روی تأثیر تزریق ANP صناعی ...
متن کاملSoluble CD30 in Normal Pregnancy Pre-Eclampsia and Recurrent Pregnancy Loss
Background: Normal pregnancy is thought to be dependent on Th2 deviation, while Recurrent Pregnancy Loss (RPL) and Pre-eclampsia (PE) appear to be biased toward the Th1 immune response. It is believed that the soluble form of CD30 (sCD30) is an index of Th2 immune response or modulator of Th1/Th2 responses. Objective: The aim of this study was determination of the sCD30 level in RPL and PE pati...
متن کاملHuman placental lactogen (hPL) deficiency in a normal pregnancy.
A case of human placental lactogen (hPL) deficiency together with normal oestriol levels associated with a normal pregnancy in a woman in her second pregnancy is reported. The woman gave birth to a healthy male infant. The placenta was normal. Extremely low hPL levels may be compatible with the delivery of a healthy infant.
متن کاملA proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
McArdle disease is a metabolic myopathy due to molecular defects in the myophosphorylase gene (PYGM), usually diagnosed in muscle biopsy. The aims of this study were to characterize genetically a large series of patients and to establish a protocol of molecular diagnosis on blood samples. We studied 55 Spanish unrelated patients with McArdle disease. Screening for the three more frequent mutati...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Obstetric Medicine
سال: 2011
ISSN: 1753-495X,1753-4968
DOI: 10.1258/om.2011.100015