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Hydrops fetalis

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https://www.readbyqxmd.com/read/29902780/contribution-of-fetal-brain-mri-in-management-of-severe-fetal-anemia
#1
L Ghesquière, V Houfflin-Debarge, P Verpillat, T Fourquet, S Joriot, C Coulon, P Vaast, C Garabedian
INTRODUCTION: Intrauterine transfusion (IUT) has changed fetal anemia prognosis. However, long-term neurodevelopmental outcome is altered in 5% of children. Our objective was to study the contribution of fetal MRI to diagnosis brain lesions in case of fetal anemia. MATERIAL AND METHODS: Retrospective monocentric descriptive study from 2005 to 2016, including all patients followed for fetal anemia requiring IUT. The indications for MRI were: hydrops fetalis and / or hemoglobin <5 g / dL and / or more than 3 IUTs and / or acute severe anemia and / or ultrasound abnormality...
June 6, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29895999/nonimmune-hydrops-fetalis-factors-which-predict-outcome
#2
Manisha Kumar, Vandana Jha, Anuradha Singh
Aims and Objective: To evaluate the cause of NIHF cases referred to a tertiary referral center and to analyze the outcome. Materials and Methods: A total of 130 cases of fetal hydrops registered during eight-year study period were reviewed. Antenatal ultrasound, blood investigations and postnatal fetal examination were done, and outcome was noted. Results: Out of 130 cases of NIHF, antenatal ultrasound showed the presence of structural malformations in 94/130 (72...
June 2018: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/29881553/a-case-of-mirror-syndrome-caused-by-hydrops-fetalis-after-fetoscopic-laser-photocoagulation
#3
Emi Kino, Yohei Maki, Masanao Ohhashi, Seishi Furukawa, Takatsugu Maeda, Hiroshi Sameshima
Fetoscopic laser photocoagulation (FLP) of placental anastomoses is a well-established procedure for twin-to-twin transfusion syndrome that improves fetal outcome with rare maternal complications. However, fetal hydrops can develop even after FLP, and mirror syndrome can occur, indicating that both the fetal and maternal courses should be monitored after FLP.
June 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29875421/a-cross-sectional-quantitative-analysis-of-the-natural-history-of-free-sialic-acid-storage-disease-an-ultra-orphan-multisystemic-lysosomal-storage-disorder
#4
Matthias Zielonka, Sven F Garbade, Stefan Kölker, Georg F Hoffmann, Markus Ries
PURPOSE: Quantitative definition of the natural history of free sialic acid storage disease (SASD, OMIM 604369), an orphan disorder due to the deficiency of the proton-driven carrier SLC17A5. METHODS: Analysis of published cases with SASD (N = 116) respecting STROBE criteria. MAIN OUTCOME PARAMETERS: survival and diagnostic delay. Phenotype, phenotype-biomarker associations, and geographical patient distribution were explored. RESULTS: Median age at disease onset was 0...
June 6, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29781742/early-prenatal-diagnosis-of-blakes-pouch-cyst-by-2d-3d-ultrasound-with-cristal-and-realistic-vue-application
#5
Gabriele Tonni, Gianpaolo Grisolia, Paolo Zampriolo, Edward Araujo Júnior, Rodrigo Ruano
INTRODUCTION: Blake's pouch cyst (BPC) represents an abnormal development of the posterior membranous area of the fetal brain. MATERIAL AND METHODS: Two- and three-dimensional ultrasound with Cristal and Realistic Vue were used to characterized the early prenatal diagnosis. RESULTS: At 9 weeks and 5 days a ballooning in the posterior fossa and resulting in an enlarged intracranial translucency (IT) was detected by 3D ultrasound using Cristal Vue in "inversion" mode and Cristal plus Realistic Vue...
May 21, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29780649/sonographic-demonstration-of-intracranial-hemorrhage-in-a-fetus-with-hydrops-fetalis-due-to-rh-alloimmunization-after-intrauterine-intravascular-transfusion-a-case-report-and-review-of-the-literature
#6
Rauf Melekoglu, Ebru Celik, Hasim Kural
Intrauterine transfusion is the most common and successful intrauterine procedure for the treatment of fetal anemia due to red cell alloimmunization. Fetal intracranial hemorrhage is a very rare complication of intrauterine transfusion in patients with Rh(D) alloimmunization and it has been demonstrated only in a few case reports in the literature. Herein, we described a case of grade IV intraventricular hemorrhage that was diagnosed following the first intrauterine transfusion and reviewed the literature about the fetal intracranial hemorrhage that occurred after intrauterine intravascular transfusion procedure...
2018: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29769237/outcomes-following-antenatal-identification-of-hydrops-fetalis-a-single-centre-experience-from-2001-to-2012
#7
Damien M Gilby, J Bridie Mee, C Omar Farouk Kamlin, Louise H Kornman, Peter G Davis, Brett James Manley
OBJECTIVE: To describe the aetiologies and outcomes of pregnancies complicated by hydrops fetalis (HF). STUDY DESIGN: Case series of all pregnancies complicated by HF managed at The Royal Women's Hospital (RWH), Melbourne, Australia, between 2001 and 2012. Multiple pregnancies, and cases where antenatal care was not provided at RWH were excluded. Cases were identified from neonatal and obstetric databases. Data were extracted from maternal and neonatal case files, electronic pathology and radiology reports, and obstetric and neonatal databases...
May 16, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29756643/isolated-premature-restriction-or-closure-of-foramen-ovale-in-fetuses-echocardiographic-characteristics-and-outcome
#8
Xiaoyan Gu, Ye Zhang, Jiancheng Han, Xiaowei Liu, Shuping Ge, Yihua He
BACKGROUND: Premature restriction or closure of foramen ovale (FO) in otherwise structurally normal hearts may be associated with right ventricular dilation, tricuspid regurgitation, pericardial effusion, heart failure, even poor perinatal outcomes. Data about these rare conditions are lacking. METHODS: We retrospectively reviewed the echocardiographic records of 9704 fetuses seen from 2010 to 2014 in Beijing Anzhen Hospital, a regional and national referral center, to ascertain the presence of restriction or closure of FO...
May 14, 2018: Echocardiography
https://www.readbyqxmd.com/read/29749692/hb-adana-hba2-or-hba1-c-179g-a-and-alpha-thalassemia-genotype-phenotype-correlation
#9
Sharon A Singh, Susmita Sarangi, Abena Appiah-Kubi, Peihong Hsu, W Byron Smith, Patrick G Gallagher, Bertil Glader, David H K Chui
Alpha thalassemia due to nondeletional mutations usually leads to more severe disease than that caused by deletional mutations. Devastating outcomes such as hydrops fetalis can occur with two nondeletional mutations, therefore warranting DNA-based workup for suspected carriers with subtle hematological abnormalities for family counseling purposes. We describe three cases with hemoglobin (Hb) Adana, a nondeletional alpha chain mutation, compounded with an alpha globin gene deletion resulting in thalassemia intermedia...
May 11, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29703613/noonan-syndrome-severe-phenotype-and-ptpn11-mutations
#10
Pilar Carrasco Salas, Gertrudis Gómez-Molina, Páxedes Carreto-Alba, Reyes Granell-Escobar, Ignacio Vázquez-Rico, Antonio León-Justel
INTRODUCTION AND OBJECTIVE: Noonan syndrome (NS) is a genetic disorder characterized by a wide range of distinctive features and health problems. It caused in 50% of cases by missense mutations in PTPN11 gene. It has been postulated that it is possible to predict the disease course based into the impact of mutations on the protein. PATIENTS AND METHODS: We report two cases of severe NS phenotype including hydrops fetalis. PTPN11 gene was studied in germinal cells of both patients by sequencing...
April 24, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29688863/infection-status-of-human-parvovirus-b19-cytomegalovirus-and-herpes-simplex-virus-1-2-in-women-with-first-trimester-spontaneous-abortions-in-chongqing-china
#11
Ya-Ling Gao, Zhan Gao, Miao He, Pu Liao
BACKGROUND: Infection with Parvovirus B19 (B19V), Cytomegalovirus (CMV) and Herpes Simplex Virus-1/2 (HSV-1/2) may cause fetal loses including spontaneous abortion, intrauterine fetal death and non-immune hydrops fetalis. Few comprehensive studies have investigated first-trimester spontaneous abortions caused by virus infections in Chongqing, China. Our study intends to investigate the infection of B19V, CMV and HSV-1/2 in first-trimester spontaneous abortions and the corresponding immune response...
April 23, 2018: Virology Journal
https://www.readbyqxmd.com/read/29678852/whole-blood-pcr-for-rapid-screening-of-%C3%AE-0-thalassemia
#12
Phongsathorn Wichian, Supawadee Yamsri, Kanokwan Sanchaisuriya, Goonnapa Fucharoen, Supan Fucharoen
Hemoglobin Bart's hydrops fetalis (homozygous α0 -thalassemia) is the most severe form of thalassemia in the Southeast Asian population. Fetuses with this disorder almost always die in utero or shortly after birth. Screening of α0 -thalassemia carrier is therefore crucial. Currently, diagnosis of α0 -thalassemia genes is done by DNA-based analysis which relies on DNA extraction. We have developed a simple screening format based on whole blood PCR assay. The method was validated on 198 specimens and the results show 100% concordance with a conventional gap-PCR on DNA specimens...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29666679/intrauterine-fetal-blood-transfusion-descriptive-study-of-the-first-four-years-experience-in-oman
#13
Arwa Z Al-Riyami, Mouza Al-Salmani, Sabria N Al-Hashami, Sabah Al-Mahrooqi, Ali Al-Marhoobi, Sumaiya Al-Hinai, Saif Al-Hosni, Sathiya M Panchatcharam, Zainab A Al-Arimi
Objectives: Haemolytic disease of the fetus and newborn (HDFN) causes hydrops fetalis . The successful treatment of HDFN has been reported with intrauterine blood transfusion (IUT). This study aimed to describe the initial experience with IUT procedures in Oman. Methods: This retrospective observational study took place at the Royal Hospital and Sultan Qaboos University Hospital Blood Bank, Muscat, Oman, and included all women who underwent IUT procedures in Oman between March 2012 and March 2016...
February 2018: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29599205/recurring-mutations-in-rpl15-are-linked-to-hydrops-fetalis-and-treatment-independence-in-diamond-blackfan-anemia
#14
Marcin W Wlodarski, Lydie Da Costa, Marie-Françoise O'Donohue, Marc Gastou, Narjesse Karboul, Nathalie Montel-Lehry, Ina Hainman, Dominika Danda, Amina Szvetnik, Victor Pastor, Nahuel Paolini, Franca M di Summa, Hannah Tamary, Abed Abu Quider, Anna Aspesi, Riekelt H Houtkooper, Thierry LeBlanc, Charlotte Niemeyer, Pierre-Emmanuel Gleizes, Alyson W MacInnes
Diamond-Blackfan anemia is a rare inherited bone marrow failure disorder linked predominantly to ribosomal protein gene mutations. The European DBA consortium reports here novel mutations identified in the RPL15 gene in 6 unrelated individuals diagnosed with Diamond-Blackfan anemia. Although point mutations have not been previously reported for RPL15, we identified 4 individuals with truncating mutations p.Tyr81* (in 3/4) and p.Gln29*, and 2 with missense variants p.Leu10Pro and p.Lys153Thr. Notably, 75% (3/4) of truncating mutation carriers manifested with severe hydrops fetalis and required intrauterine transfusions...
March 29, 2018: Haematologica
https://www.readbyqxmd.com/read/29599085/fetal-presentation-of-congenital-dyserythropoietic-anemia-type-1-with-novel-compound-heterozygous-cdan1-mutations
#15
Jessica A Meznarich, Lauren Draper, Robert D Christensen, Hassan M Yaish, Nick D Luem, Theodore J Pysher, Grace Jung, Elizabeta Nemeth, Tomas Ganz, Diane M Ward
The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29594000/nonimmune-hydrops-fetalis-due-to-autosomal-recessive-hereditary-spherocytosis
#16
Dawn M Hannah, Terry B Tressler, Claudia D Taboada
Background: Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane. The disorder is commonly inherited in an autosomal dominant fashion and leads to a mild to moderate anemia. The autosomal recessive form of hereditary spherocytosis is rarely reported in association with fetal anemia and hydrops fetalis. Case: A 25 year old G5 P2112 at 25 2/7 weeks gestation presents with severe fetal anemia and nonimmune hydrops fetalis requiring multiple fetal intrauterine transfusions...
October 2017: Case Reports in Women's Health
https://www.readbyqxmd.com/read/29575618/a-homozygous-ttn-gene-variant-associated-with-lethal-congenital-contracture-syndrome
#17
Elena Chervinsky, Morad Khayat, Sofia Soltsman, Hatem Habiballa, Orly Elpeleg, Stavit Shalev
Pathogenic variants in the TTN gene have been reported to cause various cardiomyopathies and a range of skeletal muscle diseases, collectively known as titinopathies. We evaluated a consanguineous family multiple members affected with a lethal congenital contracture syndrome. Using exome sequencing, we identified a homozygous c.36122delC (p. P12041Lfs*20) variant in exon 167 in the fetal IC isoform of TTN. The finding expands the phenotypes that can be caused by pathogenic variants TTN, which should be considered in lethal congenital contracture syndromes, arthrogryposis multiplex congenita, congenital myopathies, and hydrops fetalis...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29553854/effect-of-maternal-betamethasone-on-hydrops-fetalis-caused-by-extralobar-pulmonary-sequestration-a-case-report
#18
Cécile Guenot, Karine Dubrit, Karine Lepigeon, Eric Giannoni, David Baud, Yvan Vial
No abstract text is available yet for this article.
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29531728/indomethacin-induced-ductus-arteriosus-closure-in-midgestation-fetus
#19
Jeanette I Beaute, Kevin G Friedman
This article reports a rare but potentially serious complication of ductus arteriosus closure resulting from second-trimester indomethacin exposure. Serial echocardiograms are indicated to monitor for development of right heart dysfunction and to ensure delivery prior to the onset of right heart failure and hydrops fetalis.
March 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29515979/thymic-teratoma-presenting-as-non-immune-hydrops-fetalis
#20
Ameer Hamza, Eleftherios Vouyoukas, Ian Jacob Anderson, Martha Jaye Higgins
Teratomas are one of the most frequent tumors in the pediatric population. They occur anywhere along the midline of the body, following the course of the embryonic germ cell ridge. In the mediastinal location, they exert space occupying effects, leading to a myriad of complications, including non-immune hydrops fetalis. We describe a fatal case of an immature thymic teratoma in a neonate presenting with hydrops fetalis. This case emphasizes the importance of early diagnosis and surgical intervention in such cases...
January 2018: Autopsy & Case Reports
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