BACKGROUND Congenital fiber-type disproportion(CFTD)is a form of congenital myopathy.CFTD is rare,especially when presenting in patients with critical illnesses.Here,we report a case of CFTD presenting with type II re...BACKGROUND Congenital fiber-type disproportion(CFTD)is a form of congenital myopathy.CFTD is rare,especially when presenting in patients with critical illnesses.Here,we report a case of CFTD presenting with type II respiratory failure after delivery and provide a review of the literature on CFTD.CASE SUMMARY A 30-year-old woman was admitted to the obstetrics department of our hospital with premature rupture of the fetal membrane and with 7 h of regular contractions.After delivery,the patient experienced a refractory type II respiratory failure.Physical examination along with diagnostic procedures such as electromyography and biopsy confirmed CFTD.Use of invasive ventilator followed by intermittent use of noninvasive ventilator attenuated her symptoms.The patient recovered after ventilator-assisted respiration and was weaned off the noninvasive ventilator on the seventh day postpartum.CONCLUSION Congenital myopathy should be considered a differential diagnosis for type II respiratory failures that cannot be attributed to other diseases.展开更多
该研究探究了日粮中添加白藜芦醇对牛肌纤维类型和丝氨酸-苏氨酸蛋白激酶(serine-threonine protein kinase,Akt)/叉头盒蛋白O(forkhead box protein O,FoxO)通路信号分子的影响,并进一步以牛肌管细胞为研究对象,验证其分子机制。结果表...该研究探究了日粮中添加白藜芦醇对牛肌纤维类型和丝氨酸-苏氨酸蛋白激酶(serine-threonine protein kinase,Akt)/叉头盒蛋白O(forkhead box protein O,FoxO)通路信号分子的影响,并进一步以牛肌管细胞为研究对象,验证其分子机制。结果表明,肉牛日粮添加450 mg/kg白藜芦醇显著提高了背最长肌和腰大肌Ⅰ型纤维基因表达(P<0.05),降低了Ⅱ型纤维基因表达(P<0.05)。进一步分析其分子机制,发现,白藜芦醇显著上调肉牛背最长肌中磷酸酰肌醇3-激酶(phosphatidylinositol3-kinase,PI3K)和Akt的基因表达水平(P<0.05),显著下调FoxO 3基因表达水平(P<0.05),显著上调了PI3K、p-Akt/Akt和p-FoxO1/FoxO1蛋白表达(P<0.05);显著上调肉牛腰大肌PI 3 K和Akt的基因表达水平(P<0.05),显著下调FoxO 1和FoxO3基因表达水平(P<0.05),显著下调了FoxO1和FoxO3的蛋白表达水平(P<0.05),显著上调了PI3K、p-Akt、p-FoxO1/FoxO1和p-FoxO3/FoxO3蛋白表达(P<0.05),表明肉牛日粮添加白藜芦醇激活了Akt/FoxO通路。添加PI3K抑制剂渥曼青霉素(wortmannin)阻断Akt/FoxO信号通路后,白藜芦醇对牛肌管细胞中肌纤维类型的转化作用和对Akt/FoxO信号通路的激活作用被减弱。研究表明,白藜芦醇可通过激活Akt/FoxO通路促进牛肌纤维类型从Ⅱ型到Ⅰ型的转化。展开更多
文摘BACKGROUND Congenital fiber-type disproportion(CFTD)is a form of congenital myopathy.CFTD is rare,especially when presenting in patients with critical illnesses.Here,we report a case of CFTD presenting with type II respiratory failure after delivery and provide a review of the literature on CFTD.CASE SUMMARY A 30-year-old woman was admitted to the obstetrics department of our hospital with premature rupture of the fetal membrane and with 7 h of regular contractions.After delivery,the patient experienced a refractory type II respiratory failure.Physical examination along with diagnostic procedures such as electromyography and biopsy confirmed CFTD.Use of invasive ventilator followed by intermittent use of noninvasive ventilator attenuated her symptoms.The patient recovered after ventilator-assisted respiration and was weaned off the noninvasive ventilator on the seventh day postpartum.CONCLUSION Congenital myopathy should be considered a differential diagnosis for type II respiratory failures that cannot be attributed to other diseases.
