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Hydrops fetalis

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https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#1
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27920985/the-first-case-of-recurrent-ultra-late-onset-group-b-streptococcal-sepsis-in-a-3-year-old-child
#2
Ai Hosoda, Ryohei Gatayama, Shiori Moriyama, Noriyuki Ishii, Kenichiro Yamada, Youhei Matsuzaki, Masayoshi Shinjoh
Group B streptococcus (GBS) is a commonly recognized cause of sepsis and meningitis in neonatal and young infants. Invasive GBS infection is classified into early onset GBS disease (EOD, day 0-6), late onset GBS disease (LOD, day 7-89) and ultra late onset GBS disease (ULOD, after 3 months of age). ULOD is uncommon and recurrence is especially rare. We present the first recurrent case of ULOD GBS sepsis in 3-year-old girl with a past medical history of hydrops fetalis and thoracic congenital lymphatic dysplasia...
2017: IDCases
https://www.readbyqxmd.com/read/27876354/update-in-the-genetics-of-thalassemia-what-clinicians-need-to-know
#3
REVIEW
Xuan Shang, Xiangmin Xu
Thalassemia is a significant health problem worldwide. Prenatal diagnosis is the only effective way to prevent the birth of a fetus with severe thalassemias, which include hemoglobin Bart's hydrops fetalis and thalassemia major. However, accurate prenatal diagnosis depends on the comprehensive consideration of the molecular basis of thalassemias. To make a correct decision, the obstetrician should have a certain understanding of the genetics of thalassemias. Here we present a brief introduction of some fundamental genetic knowledge of thalassemias, including the production of hemoglobin, structure and location of globin genes, hemoglobin switch, epidemiology, clinical classification, molecular and cellular pathology, genotype-phenotype correlation, and genetic modifiers...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27862048/favorable-outcomes-after-in-utero-transfusion-in-fetuses-with-alpha-thalassemia-major-a-case-series-and-review-of-the-literature
#4
Emily M Kreger, Sylvia T Singer, Russell G Witt, Nancy Sweeters, Billie Lianoglou, Ashutosh Lal, Tippi C Mackenzie, Elliott Vichinsky
OBJECTIVE: Alpha thalassemia major (ATM) is often fatal in utero due to severe hydrops fetalis. Although in utero transfusions (IUTs) are increasingly used to allow fetal survival in ATM, prenatal and postnatal outcomes are not well described. METHODS: We retrospectively reviewed cases of ATM at our institution treated with consecutive IUT. Clinical records were reviewed for transfusion history, neurodevelopmental outcomes, anatomic abnormalities, survival to hematopoietic cell transplantation, and transfusion independence...
November 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27857529/severe-hemolytic-disease-of-the-premature-newborn-due-to-rh1-incompatibility-a-case-report
#5
Jean Uwingabiye, Hafid Zahid, Fayçal Labrini, Abdelhak El Khazraji, Anass Yahyaoui, Rachid Hadef, Nezha Messaoudi
We report a case of dramatic outcome of severe hemolytic disease in a newborn due to RH1 incompatibility. A newborn with A RH1 blood group was admitted in the Mohammed V Military Teaching Hospital for the problem of hydrops fetalis associated with RH1 incompatibility. The blood group of his mother, aged 31, was AB RH1-negative and that of his 37 year old father was A RH1. The mother had a history of 4 term deliveries, 3 abortions, and 1 living child. There was no prevention by anti-D immunoglobulin postpartum...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27853988/antenatal-manifestations-of-inborn-errors-of-metabolism-prenatal-imaging-findings
#6
Laurent Guibaud, Sophie Collardeau-Frachon, Audrey Lacalm, Mona Massoud, Massimiliano Rossi, Marie Pierre Cordier, Christine Vianey-Saban
Prenatal manifestations of inborn errors of metabolism (IEM) are related to severe disorders involving metabolic pathways active in the fetal period and not compensated by maternal or placental metabolism. Some prenatal imaging findings can be suggestive of such conditions-especially in cases of consanguinity and/or recurrence of symptoms-after exclusion of the most frequent nonmetabolic etiologies. Most of these prenatal imaging findings are nonspecific. They include mainly ascites and hydrops fetalis, intrauterine growth restriction (IUGR), central nervous system (CNS) anomalies, echogenic kidneys, epiphyseal stippling, craniosynostosis, and a wide spectrum of dysostoses...
November 16, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27809499/dna-binding-and-cleavage-by-human-parvovirus-b19-ns1-nuclease-domain
#7
Jonathan L Sanchez, Zachary Romero, Angelica Quinones, Kristiane R Torgeson, Nancy C Horton
Infection with human parvovirus B19 (B19V) has been associated with a myriad of illnesses, including erythema infectiosum (Fifth disease), hydrops fetalis, arthropathy, hepatitis, cardiomyopathy and also possibly the triggering of any number of different autoimmune diseases. B19V NS1 is a multi-domain protein that plays a critical role in viral replication, with predicted nuclease, helicase, and gene transactivation activities. Herein we investigate the biochemical activities of the nuclease domain (residues 2-176) of B19V NS1 (NS1-nuc) in sequence-specific DNA binding of the viral origin of replication sequences, as well as those of promoter sequences including the viral p6 and the human p21, TNFα, and IL-6 promoters previously identified in NS1-dependent transcriptional transactivation...
November 4, 2016: Biochemistry
https://www.readbyqxmd.com/read/27787388/hydrocephalus-secondary-to-chemotherapy-in-a-case-of-prenatally-diagnosed-giant-immature-grade-3-sacrococcygeal-teratoma-a-case-report-and-literature-review
#8
Ioan Sarbu, Demetra Socolov, Razvan Socolov, Ingrith Miron, Mioara Trandafirescu, Smaranda Diaconescu, Carmen Iulia Ciongradi
INTRODUCTION: Sacrococcygeal teratoma (SCT) is a rare tumor in the general population, arising from multipotent stem cells. Whereas most of the cases diagnosed postnatally have good prognosis, the rate of mortality and morbidities associated with prenatally diagnosed SCT remain high, with a reported mortality rate of 30% to 50%. The outcome of fetal SCT can be unpredictable, with some cases with slow growth during fetal life, whereas others grow rapidly, causing multiple complications; also, some of these tumor will develop triggering fetal (preterm delivery, high-output cardiac failure, hydrops fetalis, intrauterine death) or maternal complications (distocia, placentomegaly, maternal mirror syndrome-preeclampsia)...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27712118/zika-virus-epidemic-an-update
#9
Gregory Valentine, Lucila Marquez, Mohan Pammi
Zika Virus (ZIKV), previously the cause of only rare and sporadic human infections, is now considered a Public Health Emergency of International Concern. Over the past two years, ZIKV has become a pandemic encompassing much of the Americas. ZIKV is now proven to cause microcephaly and ophthalmic anomalies in the newborn. Hydrops fetalis, developmental delay, and other anomalies are increasingly being attributed to ZIKV infection in fetuses and neonates. Sequelae of congenital infection and rapid spread of ZIKV throughout the Americas has catapulted Zika virus concerns to the forefront of the medical community...
October 7, 2016: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/27686733/hydrops-fetalis-associated-with-compound-heterozygosity-for-hb-zurich-albisrieden-hba2-c-178g%C3%A2-%C3%A2-c-and-the-southeast-asian-sea-deletion
#10
Xin Yang, Jin-Mei Yan, Jian Li, Xing-Mei Xie, Jian-Ying Zhou, Yan Li, Dong-Zhi Li
Hb Zurich-Albisrieden [HBA2: c.178G > C; α59(E8)Gly→Arg (α2)] is a rare nondeletional α-thalassemia (α-thal) that results from a nucleotide substitution at codon 59 of the α2-globin gene. In this report, we present a fetus with cardiomegaly, enlarged placenta and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 25 weeks' gestation. Fetal blood sampling revealed the severe anemia [hemoglobin (Hb) level being 5.5 g/dL] and Hb H (β4) disease-like hematological findings with Hb Bart's (γ4) level of 30...
September 30, 2016: Hemoglobin
https://www.readbyqxmd.com/read/27670562/chylous-ascites-in-a-neonate-with-hydrops-fetalis
#11
Jenny M Held, Ryan Restrepo, Robert Ricca
No abstract text is available yet for this article.
September 2016: American Surgeon
https://www.readbyqxmd.com/read/27644483/ep03-14-using-spatiotemporal-image-correlation-with-m-mode-display-to-monitor-ventricular-systolic-function-of-hydrops-fetalis
#12
Z Xie, H Yuan
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27642479/theca-lutein-cysts-and-early-onset-severe-preeclampsia
#13
Mehmet Akif Sargin, Niyazi Tug, Ozgur Aydin Tosun, Murat Yassa, Evrim Bostanci
Hyperreactio luteinalis (HL) is a rare condition that is characterized by bilateral ovarian enlargement and multiple thin walled cysts. Hypersensitivity of the ovary to circulating human chorionic gonadotropin (hCG) is playing the main role in pathophysiology. HL observed in cases where there is high serum ß-HCG levels, similarly to gestational trophoblastic disease, multiple pregnancies, hydrops fetalis and after fertiliy treatment. Most of HL are self limiting condition and patients are asymptomatic. Differentiation from ovarian malignancies is important...
2016: Pan African Medical Journal
https://www.readbyqxmd.com/read/27598399/pulmonary-neuroendocrine-cell-hyperplasia-in-hemoglobin-bart-induced-hydrops-fetalis-a-model-for-chronic-intrauterine-hypoxia
#14
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 these effects should include changes in the pulmonary neuroendocrine system...
September 6, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27579200/a-case-of-the-tof-with-apv-complicated-with-polyhydramnios-and-severe-bronchomalacia
#15
Ali Seven, Emine Esin Yalinbas, Rahmi Ozdemir
Absent pulmonary valve syndrome (APVS) is a rare congenital heart disease with severe pulmonary insufficiency, characterized with aneurysmal dilation in the pulmonary artery and one or both of its branches. We presented a rare case with APVS and literature review in this letter. Prenatal USG examination of the fetus at the 26th week of gestation revealed severe polyhydramnios, dilatation at right ventricle, and abnormal appearance of the heart. At the 31st gestational week, the baby was born with cesarean section...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27549128/an-uncommon-inheritance-pattern-in-niemann-pick-disease-type-c-identification-of-probable-paternal-germline-mosaicism-in-a-mexican-family
#16
Marivi Cervera-Gaviria, Miguel Angel Alcántara-Ortigoza, Ariadna González-Del Angel, Paola Moyers-Pérez, Blanca Gabriela Lizet Legorreta-Ramírez, Nancy Barrera-Carmona, Jaime Cervera-Gaviria
BACKGROUND: Niemann-Pick disease type C (NP-C) is a fatal lysosomal neurodegenerative and neurovisceral disease. It is caused by defects in intracellular lipid trafficking, which lead to the accumulation of lipids and glycosphingolipids within the endosomes and lysosomes of affected individuals. Pathogenic variants of the NPC1 or NPC2 genes yield highly variable phenotypes with a time course that ranges from fetal onset (i.e., hydrops fetalis) to progressive dementia in adults. NP-C is typically inherited in an autosomal-recessive manner...
August 22, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27520605/thalassemia-syndromes-in-pregnancy
#17
Cheryl K Roth, Annmarie Puttbrese, Charlotte Ottley
Thalassemia syndromes are becoming more common in the United States as the population becomes more diverse. To provide appropriate care to this patient population, nurses must know that thalassemia syndromes are classified into two main types, α-thalassemia and β-thalassemia. α-Thalassemia is further delineated into four clinical patterns: silent carrier state, mild α-thalassemia, hemoglobin H disease, and hydrops fetalis. Understanding each of these complex anemias and their potential effects on a pregnant woman and her fetus will enable nurses to interpret these women's unique laboratory test results...
August 2016: Nursing for Women's Health
https://www.readbyqxmd.com/read/27514136/-new-approach-in-diagnostic-algorithm-of-an-infectious-agents-parvovirus-b19-and-chlamydia-trachomatis-involved-in-the-development-of-pathological-pregnancy
#18
S Voleva, St Ivanova, B Marinov, P Genova-Kalou, V Manolov, V Vasilev
UNLABELLED: Viral infections during pregnancy, along with some form of accompanying pregnancy diseases such as diabetes, cardiovascular, gastrointestinal, kidney and others, are a major cause of arising complications and mortality of mother and fetus. AIM: To improved the laboratory diagnostic approach in the study of women with pathological pregnancy, including improve treatment and prognostic character of the outcome of pregnancy, with the inclusion of two infectious agent parvovirus B19 and Chlamydia trachomatis...
2016: Akusherstvo i Ginekologii︠a︡
https://www.readbyqxmd.com/read/27492767/occurrence-of-the-%C3%A2-sea-%C3%A2-thai-and-%C3%A2-fil-%C3%AE-thalassemia-1-carriers-from-a-7-year-study-at-ramathibodi-hospital-bangkok-thailand
#19
Kobkorn Pongjantharasatien, Wansa Banyatsuppasin, Sonnarong Pounsawat, Sumalee Jindadamrongwech
α-Thalassemia (α-thal) is one of the most common genetic diseases in Thailand. Homozygosity of α-thal-1 (- -/- -) and compound heterozygosity of α-thal-1/α-thal-2 (- -/-α) leads to Hb Bart's (γ4) hydrops fetalis and Hb H (β4) disease, respectively. In order to better control and provide prevention of α-thal disease, the prevalence of α-thal-1 carriers and the types of genotypes in the Thai population should be known. A 7-year retrospective study, employing multiplex gap-polymerase chain reaction (gap-PCR) of 31,632 blood samples from Ramathibodi Hospital, Mahidol University, Bangkok, revealed an α-thal-1 carrier rate of 14...
August 2016: Hemoglobin
https://www.readbyqxmd.com/read/27452444/hemoglobin-bart-hydrops-fetalis-a-model-for-studying-vascular-changes-in-placental-hypoxia
#20
Mana Taweevisit, Paul Scott Thorner
INTRODUCTION: Placental ischemia can be pre-placental (maternal), placental or post-placental (fetal), with corresponding changes in villous vasculature. Hydrops fetalis (HF) resulting from hemoglobin (Hb) Bart disease can serve as a model for intrauterine hypoxia, and placentas from such cases show a distinctive peripheral villous stromal myofibroblastic hypercellularity (PVSH). We hypothesized that Hb Bart disease, which results in profound fetal hypoxia, would lead to placental hypoxia on a post-placental basis...
August 2016: Placenta
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