Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community☆

Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age...

متن کامل

Successful pregnancy and delivery in a woman with panhypopituitarism

To The Editor: Pregnancy after a complete loss of hypophyseal function is rare. Lack of growth hormone (GH), adrenocorticotropin (ACTH) and thyroid-stimulating hormone (TSH) in childhood may result in malfunction of different organ systems, affecting fertility. Complete lack of ovarian stimulation by FSH and LH results in anovulation and ovarian atrophy. We present a patient with panhypopituita...

متن کامل

Successful pregnancy in a woman with Causos Inversus associated with hepatic mania: a Rare Case Report

Abstract Background and aim :Dextrocardia an abnormal heart condition in which the heart in the right hemothorax axis apex is located to the right .Dextrocardia is a rare malformation with an estimated 1 in 10,000 people. The aim of this study is to report a case of a pregnant woman with dextrocardia with hemangioma of the liver. Case presentation: A 30 year’s old woman, first pregnancy, gestat...

متن کامل

Propionic acidemia in the newborn.

Propionic acidemia is a rare, autosomal, recessively inherited inborn error of propionate metabolism. It presents most often as a neonatal life threatening emergency with metabolic acidosis, hyperammonemia, hyperglycinemia and hyper gylcinuria. Since its first description in a male infant with episodic metabolic acidosis and hyperglycinemia(l), more than 100 cases have been reported. The presen...

متن کامل

A Successful Planned Pregnancy and Delivery with Eculizumab Maintenance in a Woman with Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a hematologic disorder characterized by complement-mediated hemolysis leading to severe complications, such as life threatening thrombosis. Eculizumab, a humanized anti-C5 monoclonal antibody, has dramatically improved outcomes of patients with PNH. Despite this new revolutionary treatment, clinical information regarding eculizumab use in pregnant wo...

متن کامل

ذخیره 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: Molecular Genetics and Metabolism Reports

سال: 2016

ISSN: 2214-4269

DOI: 10.1016/j.ymgmr.2016.05.003