نتایج جستجو برای: a cute hydrops

تعداد نتایج: 13432416  

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: :Clinical chemistry 2007
Sherry Sze Yee Ho Samuel S Chong Evelyn S C Koay Yiong Huak Chan Ponnusamy Sukumar Lily-Lily Chiu Wen Wang Ashim Roy Mary Rauff Lin Lin Su Arijit Biswas Mahesh Choolani

BACKGROUND We sought to develop a rapid prenatal diagnostic test for simultaneous detection of HbBarts hydrops fetalis and exclusion of maternal contamination. METHODS We developed a multiplex quantitative fluorescent PCR (QF-PCR) test that detects the presence/ absence of 2 microsatellite markers (16PTEL05/16PTEL06) located within breakpoints of the Southeast Asia ((-SEA)) deletion. HbBarts ...

Journal: :Nevrologiâ, nejropsihiatriâ, psihosomatika 2023

Meniere's disease (MD) is a chronic characterized by spontaneous recurrent attacks of vestibular vertigo, hearing loss, tinnitus, ear congestion, and other symptoms. Patients with acutely developed vertigo in most cases seek medical help from neurologist. MD the presence endolymphatic hydrops, but there no clear correlation between severity hydrops clinical manifestations. The presentation vari...

2012
Wen Wang Christine H.A. Yap Seong Feei Loh Arnold S.C. Tan Mui Nee Lim Ethiraj B. Prasath Melinda L.H. Chan Wei Chin Tan Boran Jiang Gare Hoon Yeo Joyce Matthew Angela Ho Sherry S.Y. Ho Peng Cheang Wong Mahesh A. Choolani Samuel S. Chong

The high incidence of double-gene deletions in α-thalassemia increases the risk of having pregnancies with homozygous α0-thalassemia, the cause of the lethal hemoglobin (Hb) Bart’s hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, current gap-PCR based PGD protocol for deletional α-thalassemia required specific prim...

Journal: :jundishapur journal of microbiology 0
mitra aldaghi department of pediatric gastroenterology, namazi hospital, shiraz university of medical sciences, shiraz, ir iran; department of pediatric gastroenterology, namazi hospital, shiraz university of medical sciences, shiraz, ir iran. tel/fax: +98-7116242534 mahmoud haghighat department of pediatric gastroenterology, namazi hospital, shiraz university of medical sciences, shiraz, ir iran seyed mohsen dehghani department of pediatric gastroenterology, namazi hospital, shiraz university of medical sciences, shiraz, ir iran

conclusions acute acalculous gallbladder disease is a rare complication of hav infection which should be suspected in any child with right upper quadrant abdominal pain, tenderness, and mass which can lead to surgical emergency in rare conditions. introduction acute hepatitis a virus (hav) infection is common in the developing countries among children, but hydrops of gallbladder due to hepatiti...

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...

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...

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