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Hydrops fetalis

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https://www.readbyqxmd.com/read/29678852/whole-blood-pcr-for-rapid-screening-of-%C3%AE-0-thalassemia
#1
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
#2
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
#3
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
#4
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...
March 20, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29594000/nonimmune-hydrops-fetalis-due-to-autosomal-recessive-hereditary-spherocytosis
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/29500832/improved-diagnosis-in-non-immune-hydrops-fetalis-using-a-standardized-algorithm
#10
Marie Laterre, Pierre Bernard, Miika Vikkula, Yves Sznajer
OBJECTIVE: The aim of this study was to outline the disease etiology in a cohort of fetuses prenatally diagnosed with non-immune hydrops fetalis (NIHF). METHODS: Based on a literature review we defined precise criteria to select the NIHF cases. Those were further classified into 14 categories. To complete this first step, a literature review was performed using homogeneous criteria to compare our results. RESULTS: Over the 10-year period, 102 fetuses were diagnosed with NIHF and included in the analysis...
March 2, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29498944/comparison-of-transcutaneous-and-serum-bilirubin-measurements-in-neonates-30-to-34-6-7-weeks-gestation-before-during-and-after-phototherapy
#11
Amy Jnah, Desi M Newberry, Elaine Eisenbeisz
BACKGROUND: The use of noninvasive, transcutaneous bilirubin monitoring (TcB) as a jaundice screen in full-term infants is well established; however, there is a paucity of research evaluating the use of TcB in premature infants. PURPOSE: To compare agreement and consistency of transcutaneous and serum bilirubin measurements in a multiracial premature infant population ranging from 30 to 34 6/7 weeks' gestation before, during, and after phototherapy. METHODS: Forty-five neonates, 30 to 34 6/7 weeks' gestation, were enrolled in this prospective, correlational study over a 12-month period...
March 1, 2018: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29493331/characterization-of-hb-bart-s-hydrops-fetalis-caused-by-sea-and-a-large-novel-%C3%AE-0-thalassemia-deletion
#12
Sheng He, Jihui Li, Peng Huang, Shujie Zhang, Li Lin, Yangjin Zuo, Xiaoxian Tian, Chenguang Zheng, Xiaoxia Qiu, Biyan Chen
Hb Bart's hydrops fetalis is the most severe and generally fatal clinical phenotype of α-thalassemia (α-thal), which is due to the deletion of all four functional α-globin genes of hemoglobin (Hb), resulting in no α-globin chain production (- -/- -). Homozygosity for the - -SEA (Southeast Asian) α-globin gene deletion is the main cause of the Hb Bart's hydrops fetalis in Asia, especially South China. Occasionally, other α0 -thal deletions can also be found. In this study, we report a case with an atypical form of Hb Bart's hydrops fetalis that was caused by - -SEA and a large novel α0 -thal deletion (- -GX ) (Guangxi)...
March 1, 2018: Hemoglobin
https://www.readbyqxmd.com/read/29480868/mesalazine-as-a-cause-of-fetal-anemia-and-hydrops-fetalis-a-case-report-erratum
#13
(no author information available yet)
No abstract text is available yet for this article.
January 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29476829/management-of-red-blood-cell-alloimmunization-in-pregnancy
#14
REVIEW
L Ghesquière, C Garabedian, C Coulon, P Verpillat, T Rakza, B Wibaut, A Delsalle, D Subtil, P Vaast, V Debarge
The main cause of fetal anemia is maternal red blood cell alloimmunization (AI). The search of maternal antibodies by indirect antiglobulin test allows screening for AI during pregnancy. In case of AI, fetal genotyping (for Rh-D, Rh-c, Rh-E and Kell), quantification (for anti-rhesus antibodies) and antibody titration, as well as ultrasound monitoring, are performed. This surveillance aims at screening for severe anemia before hydrops fetalis occurs. Management of severe anemia is based on intrauterine transfusion (IUT) or labor induction depending on gestational age...
February 21, 2018: Journal of gynecology obstetrics and human reproduction
https://www.readbyqxmd.com/read/29476731/metabolic-causes-of-nonimmune-hydrops-fetalis-a-next-generation-sequencing-panel-as-a-first-line-investigation
#15
Bénédicte Sudrié-Arnaud, Florent Marguet, Sophie Patrier, Jelena Martinovic, Ferielle Louillet, Françoise Broux, Françoise Charbonnier, Hélène Dranguet, Sophie Coutant, Myriam Vezain, Raphaël Lanos, Abdellah Tebani, Maria Fuller, Foudil Lamari, Pascal Chambon, Anne-Claire Brehin, Laetitia Trestard, Isabelle Tournier, Stéphane Marret, Eric Verspyck, Annie Laquerrière, Soumeya Bekri
PURPOSES: Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps. In addition, this approach is time consuming...
February 21, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29450198/parvovirus-b19-what-is-the-relevance-in-transfusion-medicine
#16
REVIEW
David Juhl, Holger Hennig
Parvovirus B19 (B19V) has been discovered in 1975. The association with a disease was unclear in the first time after the discovery of B19V, but meanwhile, the usually droplet transmitted B19V is known as the infectious agent of the "fifth disease," a rather harmless children's illness. But B19V infects erythrocyte progenitor cells and thus, acute B19V infection in patients with a high erythrocyte turnover may lead to a life-threatening aplastic crisis, and acutely infected pregnant women can transmit B19V to their unborn child, resulting in a hydrops fetalis and fetal death...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29444212/loss-of-function-mutations-in-ephb4-are-responsible-for-vein-of-galen-aneurysmal-malformation
#17
Alexandre Vivanti, Augustin Ozanne, Cynthia Grondin, Guillaume Saliou, Loic Quevarec, Helène Maurey, Patrick Aubourg, Alexandra Benachi, Marta Gut, Ivo Gut, Jelena Martinovic, Marie Victoire Sénat, Marcel Tawk, Judith Melki
Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p.His191Alafs*32) or inherited deleterious splice or missense mutations predicted to be pathogenic by in silico tools...
February 9, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29419878/-progress-in-genetic-research-on-non-immune-hydrops-fetalis
#18
Xiyang Ma, Qinghua Wu
Non-immune factors are the most common cause of hydrops fetalis, which may manifest as abnormal accumulation of fluid in the body cavities. Hydrops fetalis is a complex condition with a high mortality rate. The prognosis is depending on the underlying disease and is particularly poor in those with chromosomal aberrations or monogenic disorders. In this paper, advance in the research on non-immune hydrops fetalis is reviewed.
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29414431/a-case-of-vasculopathy-of-unknown-etiology-associated-with-fatal-hydrops-fetalis-and-review-of-the-literature-on-intimomedial-mucoid-degeneration
#19
Michael P Zaleski, Youngmin Chu, Elizabeth Frauenhoffer, Jozef Malysz, Negar Rassaei, Catherine Abendroth, Erik Washburn, Wayne Ross, Francesca Ruggiero, Karmaine Millington
Non-immune hydrops fetalis (NIHF) has a high mortality rate [1]. Many etiologies of NIHF have been identified, including cardiovascular abnormalities, severe anemia, and genetic defects. In patients with cardiovascular etiology, structural malformations lead to fluid accumulation resulting in increased intravascular hydrostatic pressure. We report a fatal case of NIHF in a 31 week gestational age, Caucasian neonate with heart remodeling associated with a stenotic vasculopathy of the right pulmonary artery. The artery revealed partial occlusion with vascular wall abnormalities, including disarrayed smooth muscle fibers, hyperplasia within the tunica media, and myxoid change within the media and intima...
January 9, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29390381/mesalazine-as-a-cause-of-fetal-anemia-and-hydrops-fetalis-a-case-report
#20
Sverker Ek, Staffan Rosenborg
RATIONALE: Mesalazine and its prodrug sulfasalazine are both used for inflammatory bowel disease. Sulfasalazine has been associated with hematological side-effects such as aplastic and hemolytic anemia in patients, but also in fetuses after intrauterine exposure. To our knowledge, we describe the first case of a fetus with severe anemia, and subsequent hydrops, where this drug was found at concentrations in the fetus corresponding to those in the mother and most likely responsible for the fetal condition...
December 2017: Medicine (Baltimore)
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