نتایج جستجو برای: hydrops

تعداد نتایج: 1730  

2014
Paul Singh Cristiano Jodicke Tara Swanson Dev Maulik

Introduction Most often, ganglioneuromas affect older pediatric and adult patients. They are typically slow growing tumors that remain clinically silent until they become large enough to cause symptoms by compression of adjacent structures. Case We report a case of a 22-year-old Hispanic gravida 2 para 1 female patient who was found to have massive hydrops fetalis at 20 completed gestational we...

2013
Marco Gasparetto Laura Giordano Mara Cananzi Valeria Beltrame Gianni Bisogno Graziella Guariso

Introduction. Few cases of common bile duct stenosis have been reported in the literature, and observations of strictures in the cystic duct are even more rare. Surgical cholecystectomy is the treatment needed in most cases of gallbladder hydrops. This paper describes the diagnosis and successful medical treatment of a rare pediatric case of cystic duct stenosis and gallbladder hydrops. Case Re...

Journal: :Human molecular genetics 2011
Yi-Ching Lee Chia-Jung Chang Deeksha Bali Yuan-Tsong Chen Yu-Ting Yan

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficiency in glycogen-branching enzyme (GBE1) activity that results in the accumulation of amylopectin-like polysaccharide, which presumably leads to osmotic swelling and cell death. This disease is extremely heterogeneous in terms of tissue involvement, age of onset and clinical manifestation. The most sev...

2010
Shilpa Singla Sunesh Kumar Kallol Kumar Roy Jai Bhagwan Sharma Garima Kachhawa

INTRODUCTION Rhesus haemolytic disease of the newborn is a prototype of maternal isoimmunisation and fetal haemolytic disease. There are other rare blood group antigens capable of causing alloimmunisation and haemolytic disease such as c, C, E, Kell and Duffy. In India, after the confirmation of a newborn's blood group, antibodies are screened only if the mother is Rehsus D-negative negative an...

2016
Adriana M Montaño Ngu Lock-Hock Robert D Steiner Brett H Graham Marina Szlago Robert Greenstein Mercedes Pineda Antonio Gonzalez-Meneses Mahmut Çoker Dennis Bartholomew Mark S Sands Raymond Wang Roberto Giugliani Alfons Macaya Gregory Pastores Anastasia K Ketko Fatih Ezgü Akemi Tanaka Laila Arash Michael Beck Rena E Falk Kaustuv Bhattacharya José Franco Klane K White Grant A Mitchell Loreta Cimbalistiene Max Holtz William S Sly

BACKGROUND Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease ha...

2015
Wonkyung Yeom E Sun Paik Jung-Joo An Soo-young Oh Suk-Joo Choi Cheong-Rae Roh Jong-Hwa Kim

OBJECTIVE To investigate the clinical characteristics of fetal hydrops and to find the antenatal ultrasound findings predictive of adverse perinatal outcome. METHODS This is a retrospective study of 42 women with fetal hydrops who delivered in a tertiary-referral center from 2005 to 2013. Fetal hydrops was defined as the presence of fluid collection in ≥2 body cavities: ascites, pleural effus...

2014
Milanka Simoncic Silvo Kopriva Ziva Zupancic Maja Jerse Janez Babnik Matevz Srpcic Stefan Grosek

BACKGROUND Mediastinal fetal teratoma can be detected as a mass in the chest during a routine prenatal ultra-sound screening. Because of the pressure on mediastinal structures it can be the cause of non-immune hydrops fetalis and polyhydramnion. The development of hydrops fetalis leads to fetal death or premature delivery in most reported cases. Early surgical removal is important, but, the res...

2008
Shilpa Singla Sunesh Kumar Jain Kallol Kumar Roy Jai Bhagwan Sharma Garima Kachhawa Arun Sasi

Introduction: Rh hemolytic disease of newborn is the prototype of maternal isoimmunisation and fetal hemolytic disease. There are other minor blood group antigens capable of causing alloimmunisation and hemolytic disease such as c, C, E, Kell and Duffy. In India, after confirmation of blood group, antibodies are screened only in Rh (D) negative mothers with Rh (D) positive husband. Hydrops in R...

2005
I. M. FROHN-MULDER

Fetal supraventricular tachycardia (SVT) can be successfully treated transplacentally, but in cases where fetal hydrops develops there is considerable morbidity and mortality. The present study was carried out to establish whether the introduction of flecainide altered obstetric management and fetal outcome. A retrospective analysis took place of 51 singleton pregnancies which were referred to ...

2013
Ercan Tutak Ayla Eker Sarıboyacı Altuğ Semiz Necip Cihangir Yılanlıoğlu Cem Kara

Sum mary Sialidosis is a rare congenital lysosomal storage disease with autosomal recessive transmission caused by a deficiency of alpha-N-acetylneuraminidase (sialidase). The findings begin in the intrauterine period in congenital type of sialidosis and the cases die in the postnatal period due to hydrops fetalis with multiorgan failure. Here, a case of premature baby born to a consanguineous ...

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