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Hydrops fetalis

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https://www.readbyqxmd.com/read/28915526/-exit-a-possible-intervention-for-new-and-earlyborn-babies-with-severe-hydrops-fetalis-and-hydrothoraces-on-both-sides
#1
Sandra Koch, Jochen Essers, Ortraud Beringer, Frank Reister, Helmut Hummler, Anja Moewes
The EXIT (ex utero intrapartum treatment) procedure is an established method of respiratory protection, originally used in the delivery of fetuses with congenital obstructive airway diseases (tumors in the throat area, hygromas, so-called congenital high airway obstruction syndrome (CHAOS)). Meanwhile, the procedure is also carried out in large perinatal centers for pronounced diaphragmatic hernia or other special indications (EXIT to ECMO, congenital lung airway malformations (CCAM), pulmonary atresia). We present our experience with adapted EXIT procedures in 5 preterm infants with secondary generalized hydrops fetalis and pronounced bilateral hydrothoraces...
September 15, 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28833310/transplacental-treatment-of-fetal-tachycardia-a-systematic-review-and-meta-analysis
#2
Garick D Hill, Joshua R Kovach, David E Saudek, Anoop K Singh, Karla Wehrheim, Michele A Frommelt
OBJECTIVE: Multiple transplacental medications can be used to treat fetal tachycardia. We sought to perform a systematic review and meta-analysis to determine whether digoxin, flecainide or sotalol was the most efficacious therapy for converting fetal tachycardia to sinus rhythm. METHOD: We performed a systematic review and meta-analysis to compare digoxin, flecainide or sotalol as first-line therapy for fetal tachycardia. Studies were identified by a search of PubMed (Medline), Web of Science, and Scopus...
August 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28833278/whole-genome-sequencing-identifies-etiology-of-recurrent-male-intrauterine-fetal-death
#3
Omar Shehab, David J Tester, Nicholas C Ackerman, F Susan Cowchock, Michael J Ackerman
OBJECTIVE: To identify the underlying genetic cause for recurrent intrauterine fetal death (IUFD) of males. METHODS: Whole genome sequencing (WGS) was performed on DNA from 5 healthy obligatory carrier females and an unaffected male offspring of a multigenerational pedigree with recurrent second trimester IUFD of males (n=19). When documented, all deaths occurred at ≤ 20 weeks gestation. Hydrops fetalis was diagnosed at death in the most recent case. RESULTS: Following variant filtering based on a recessive X-linked inheritance pattern, a rare FOXP3 frame-shift mutation (p...
August 18, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28822227/inborn-errors-of-metabolism-in-a-cohort-of-pregnancies-with-non-immune-hydrops-fetalis-a-single-center-experience
#4
Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi, Fathiya Al Murshedi, Abeer Al Sayegh, Adila Al Kindy, Douja Meftah, Khalsa Al Kharusi, Amel Al Foori, Naeema Al Yarubi, Patrick Scott, Khalid Al-Thihli
OBJECTIVE: The purpose of this study was to determine the frequency of non-immune hydrops fetalis (NIHF) among all pregnancies referred for prenatal care at Sultan Qaboos University Hospital (SQUH) during the study period and to evaluate the underlying etiologies of NIH. STUDY DESIGN: All pregnancies referred to SQUH between February 2014 and December 2015 were identified, and all pregnancies meeting the diagnosis of NIHF were included in this study. All cases of NIHF referred to our center during this period underwent standard systematic diagnostic work-up that included biochemical and molecular studies in addition to the standard investigations for hydrops fetalis...
August 19, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28817202/perinatal-mortality-in-japanese-women-diagnosed-with-gestational-diabetes-mellitus-and-diabetes-mellitus
#5
Mamoru Morikawa, Takashi Sugiyama, Norimasa Sagawa, Yuji Hiramatsu, Hiroshi Ishikawa, Hiromi Hamada, Takashi Kameda, Emiko Hara, Shigeru Toda, Hisanori Minakami
AIMS: The objective of this study was to determine how many pregnant Japanese women with diabetes mellitus (DM)/gestational diabetes mellitus (GDM) experience perinatal mortality in the presence of fetal anomalies. METHODS: Our investigation included data from 205 secondary/tertiary obstetric facilities located widely in Japan. The Japan Ministry of Health, Labour and Welfare Vital Statistics of Japan was used for comparison. RESULTS: Of 237 941 women giving birth at 205 hospitals, 1796 (0...
August 17, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28805606/detection-of-sea-type-%C3%AE-thalassemia-in-embryo-biopsies-by-digital-pcr
#6
Ta-Hsien Lee, Ya-Chiung Hsu, Chia Lin Chang
OBJECTIVE: Accurate and efficient pre-implantation genetic diagnosis (PGD) based on the analysis of single or oligo-cells is needed for timely identification of embryos that are affected by deleterious genetic traits in in vitro fertilization (IVF) clinics. Polymerase chain reaction (PCR) is the backbone of modern genetic diagnoses, and a spectrum of PCR-based techniques have been used to detect various thalassemia mutations in prenatal diagnosis (PND) and PGD. Among thalassemias, SEA-type α-thalassemia is the most common variety found in Asia, and can lead to Bart's hydrops fetalis and serious maternal complications...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28777121/raf1-variants-causing-biventricular-hypertrophic-cardiomyopathy-in-two-preterm-infants-further-phenotypic-delineation-and-review-of-literature
#7
Danielle Thompson, Jessica Patrick-Esteve, Jeffrey W Surcouf, Dana Rivera, Bianca Castellanos, Pooja Desai, Christian Lilje, Yves Lacassie, Michael Marble, Regina Zambrano
Noonan syndrome (NS) is an autosomal dominant disorder characterized by distinctive facial features, short neck, short stature, congenital heart defects, pectus deformities, and variable developmental delays. NS is genetically heterogeneous as pathogenic variants in several genes involved in the Ras/mitogen-activated protein kinase pathway have been associated with a NS phenotype. Overall, 50% of patients harbor pathogenic variants in PTPN11, whereas 3-17% of patients have variants in RAF1. We present two premature neonates with progressive biventricular hypertrophy found to have RAF1 variants in the CR2 domain...
August 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28770119/first-report-on-fetal-cerebral-polyglucosan-bodies-in-mucopolysaccharidosis-type-vii
#8
Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D'Haene
We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28749998/lc-ms-ms-multiplex-analysis-of-lysosphingolipids-in-plasma-and-amniotic-fluid-a-novel-tool-for-the-screening-of-sphingolipidoses-and-niemann-pick-type-c-disease
#9
Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan
BACKGROUND: The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODOLOGY: We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS/MS: lysoglobotriaosylceramide for Fabry disease, lysohexosylceramide (i...
2017: PloS One
https://www.readbyqxmd.com/read/28727978/pulmonary-neuroendocrine-cell-hyperplasia-in-hemoglobin-bart-induced-hydrops-fetalis-a-model-for-chronic-intrauterine-hypoxia
#10
Mana Taweevisit, Boochit Theerasantipong, Kanlaya Taothong, Paul Scott Thorner
The pulmonary neuroendocrine system includes pulmonary neuroendocrine cells (PNECs) and neuroepithelial bodies (NEBs) that are distributed throughout respiratory epithelium and regulate lung growth and maturation antenatally. Abnormalities in this system have been linked to many hypoxia-associated pediatric pulmonary disorders. Hemoglobin (Hb) Bart disease is a severe form of α-thalassemia resulting in marked intrauterine hypoxia with hydrops fetalis (HF) and usually death in utero. Affected fetuses can serve as a naturally occurring human model for the effects of intrauterine hypoxia, and we postulated that these effects should include changes in the pulmonary neuroendocrine system...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28672054/the-prognostic-factors-of-hydrops-fetalis-with-pleural-effusion
#11
Atsushi Nakayama, Makoto Oshiro, Yasumasa Yamada, Tetsuo Hattori, Yasuhiro Wakano, Seiji Hayashi, Minoru Kokubo, Koji Takemoto, Shigeru Honda, Kuniko Ieda, Hikaru Yamamoto, Masanori Kouwaki, Kyoko Yokoi, Osamu Shinohara, Takenori Kato, Masafumi Miyata, Taihei Tanaka, Masahiro Hayakawa
BACKGROUND: Hydrops fetalis (HF) has low survival rate, particularly in cases of preterm birth. In addition, the severity index of HF has not been fully investigated yet. This study was aimed to clarify the prognostic factors of HF patients with pleural effusion. METHODS: All live-born HF patients with pleural effusion, except for chromosomal abnormality or complex congenital heart disease, born from 2009 to 2013 in Aichi Prefecture in Japan were included. The prenatal, perinatal, and postnatal information was obtained from their medical records and was retrospectively analyzed...
July 3, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28648573/personalized-treatment-with-immunoadsorption-and-intravenous-immunoglobulin-in-a-case-of-severe-rh-alloimmunization-during-pregnancy-unresponsive-to-plasma-exchange
#12
Anna Colpo, Tiziana Tison, Maria Teresa Gervasi, Cinzia Vio, Maria Vicarioto, Giustina De Silvestro, Piero Marson
INTRODUCTION: Despite prophylaxis, a small proportion of RhD-negative women may develop anti-D antibodies after a sensitizing event occurring during pregnancy or delivery of a D-positive baby. Intrauterine transfusion (IUT) is the treatment of choice in case of fetal anemia, but it cannot be performed early during pregnancy. Combined treatment with therapeutic plasma-exchange (TPE) and intravenous immunoglobulin (IVIG) can avoid or delay IUT. Immunoadsorption (IA) could represent a more effective treatment in selected cases...
June 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28647738/outcome-and-treatment-of-antenatally-diagnosed-nonimmune-hydrops-fetalis
#13
Ahmed A Nassr, Amen Ness, Pardis Hosseinzadeh, Bahram Salmanian, Jimmy Espinoza, Victoria Berger, Eleonore Werner, Hadi Erfani, Stephen Welty, Zhoobin H Bateni, Amir A Shamshirsaz, Edwina Popek, Rodrigo Ruano, Alexis S Davis, Timothy C Lee, Sundeep Keswani, Darrell L Cass, Oluyinka O Olutoye, Michael A Belfort, Alireza A Shamshirsaz
INTRODUCTION: The objectives of this study were to evaluate the outcome of nonimmune hydrops fetalis in an attempt to identify independent predictors of perinatal mortality. MATERIAL AND METHODS: A retrospective cohort study was conducted including all cases of nonimmune hydrops from two tertiary care centers. Perinatal outcome was evaluated after classifying nonimmune hydrops into ten etiological groups. We examined the effect of etiology, site of fluid accumulation, and gestational age at delivery on postnatal survival...
June 24, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28621803/absent-pulmonary-valve-syndrome-diagnosis-associations-and-outcome-in-71-prenatally-diagnosed-cases
#14
Roland Axt-Fliedner, Andrii Kurkevych, Maciej Slodki, Maria Respondek-Liberska, Katarzyna Zych-Krekora, Rüdiger Stressig, Jochen Ritgen, Guiseppe Rizzo, Martin Krapp, Luc de Catte, Gunther Mielke, Stephan Bosselmann, Mathias Meyer-Wittkopf, Andreea Kawecki, Aline Wolter, Marios Mamalis, Christian Enzensberger
OBJECTIVE: The objective of this study was to analyze the spectrum of prenatally diagnosed absent pulmonary valve syndrome (APVS) and the outcome from diagnosis onwards. Fetuses with APVS and tetralogy of Fallot (TOF/APVS) and with APVS and intact ventricular septum (APVS/IVS) were included. METHOD: Multicenter retrospective study of the International Prenatal Cardiology Collaboration Group. Clinical and echocardiographic databases of nine referral centers were reviewed from 2012-2016...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28611934/etiology-and-perinatal-outcome-of-nonimmune-hydrops-fetalis-in-southern-china
#15
Sheng He, Linlin Wang, Pingshan Pan, Hongwei Wei, Dahua Meng, Juan Du, Xiaoxian Tian, Chenguang Zheng, Xiaoxia Qiu, Guoyang Luo
Objective  This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods  All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed. Results  Total 482 cases of NIHF were identified during the study period. The most common cause of NIHF was hemoglobin (Hb) Bart's disease (61.8%), followed by chromosomal abnormalities (13.5%), idiopathic etiology (13.1%), cardiac abnormalities (6.4%), and others (5...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28603204/a-6-year-old-girl-diagnosed-with-mevalonate-kinase-deficiency-who-had-hydrops-fetalis-and-neonatal-onset-cholestasis
#16
Yuriko Yamashita, Shinsuke Matsumoto, Ryugo Hiramoto, Isao Komori, Takayuki Tanaka, Ryuta Nishikomori, Toshio Heike, Shuichiro Umetsu, Ayano Inui
  We experienced a 6-year-old girl diagnosed with mevalonate kinase deficiency (MKD) who had cholestasis, anemia, and elevated inflammatory markers in neonatal period. She was admitted to our hospital because of fever and elevated inflammatory markers at 5 years 11months of age. Without using antibiotics, the fever and the inflammatory markers were spontaneously resolved. MKD was suspected from elevated serum IgD level and the recurrent febrile attacks. The genetic test revealed heterozygous mutation of p...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28586146/locating-the-level-and-extent-of-congenital-high-airway-obstruction-fluid-in-the-airway-tract-as-reference-points
#17
Mamatha Gowda, Shilpa Gupta, Ashraf Ali, Shanthi Paranthaman
Described here are a series of four cases of congenital high airway obstruction in the fetus. All of the patients presented in the second trimester and all had hydrops fetalis. Three cases had bilateral hyperinflated lungs, midline shift of heart, flattening or inversion of the diaphragm, and fetal ascites. Autopsy was performed in one of these three and showed laryngeal atresia. In one fetus, there was only a unilateral huge enlargement of the lung with mediastinal shift. On autopsy, this fetus had atresia of right main bronchus...
October 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28580721/persistent-hemolytic-disease-of-the-fetus-and-newborn-hdfn-associated-with-passive-acquisition-of-anti-d-in-maternal-breast-milk
#18
Marissa Li, John C Blaustein
BACKGROUND: Anti-D is a well-documented, significant cause of hemolytic disease of the fetus and newborn (HDFN), but its presence in breast milk is not routinely described. Theoretically, breast milk containing anti-D could have the potential to exacerbate HDFN if ingested by the affected infant. STUDY DESIGN AND METHODS: This is a case report of a 28-week premature male neonate with hydrops fetalis born to a 32-year-old woman (gravidity 3/parity 3) with anti-D and anti-G...
June 5, 2017: Transfusion
https://www.readbyqxmd.com/read/28561210/cardiac-etiologies-of-hydrops-fetalis
#19
Shi-Min Yuan
Cardiac etiologies of hydrops fetalis have been a topic of concern due to challenging perinatal management. The common cardiac etiologies leading to hydrops fetalis include structural cardiac anomalies, cardiac dysrhythmias, cardiac tumors, cardiomyopathy and myocarditis. The mechanisms of cardiogenic hydrops fetalis may be: 1) elevation of atrial pressure and volume overload, 2) decrease of cardiac output, and 3) development of congestive heart failure. The diagnosis of hydrops fetalis was usually made at 19-36 gestational weeks, when ultrasound is a highly effective diagnostic method...
April 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28536688/isolated-fetal-lymphatic-malformation-of-the-thigh-prenatal-diagnosis-and-follow-up
#20
Huseyin Durukan, İlay Gözükara, Murside Cevikoglu, Talat Umut Kutlu Dilek
Fetal lymphatic malformation can be found in different parts of the fetal body. It occurs most frequently in the nuchal and axillary region and less frequently in the abdomen or inguinal areas. Lymphatic malformation has been associated with fetal aneuploidy, hydrops fetalis, structural malformations, and intrauterine fetal death. A 31-year-old gravida 3, para 2 woman was admitted to our hospital at 22 weeks of gestation (confirmed by ultrasonographic examination). The fetus was alive, and had a mass derived from the left inguinal region extending to the anterior left leg with fluid-filled cavities about 3-5 cm in size...
January 2017: Autopsy & case reports
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