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Hydrops fetalis

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https://www.readbyqxmd.com/read/28336317/lethal-multiple-pterygium-syndrome-a-severe-phenotype-associated-with-a-novel-mutation-in-the-nebulin-gene
#1
Ebtesam Abdalla, Gianina Ravenscroft, Louay Zayed, Sarah J Beecroft, Nigel G Laing
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma, hydrops fetalis, pulmonary hypoplasia, occasional arthrogryposis, and pterygia. The pathogenetic mechanisms of fetal akinesia deformation sequence include neuropathy, muscular disorders, neuromuscular junction disorders, maternal myasthenia gravis, restrictive dermopathy and others...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28318049/kaposiform-hemangioendothelioma-presenting-as-hydrops-fetalis
#2
Elena Sobrino-Fernández, Minia Campos-Domínguez, Rebeca Gregorio-Hernández, Jorge Huerta-Aragonés, Cristina Beléndez-Bieler, Ángel Lancharro-Zapata, María Luisa Franco-Fernández, Belén Bernardo-Atienza, Manuel Sánchez-Luna
We describe the case of a 33-week preterm infant who developed nonimmune hydrops fetalis secondary to a kaposiform hemangioendothelioma (KHE). The tumor was successfully treated with vincristine, prednisone, ticlopidine, and aspirin. KHE can be an unusual cause of hydrops fetalis; in such cases, diagnosis can be challenging since generalized edema can obscure KHE.
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28277912/fetal-hemoglobin-bart-s-hydrops-fetalis-pathophysiology-prenatal-diagnosis-and-possibility-of-intrauterine-treatment
#3
Phudit Jatavan, Nipon Chattipakorn, Theera Tongsong
This review aimed to comprehensively summarize current available reports regarding the ultrasound markers and biomarkers in predicting fetal Hb Bart's disease and evaluate the potential role of cardiac function assessment in a clinical practice. This review involves various methods in prenatal predicting fetal Hb Bart's disease or alpha-thalassemia major and attempts to provide valuable insights regarding the underlying mechanisms responsible for heart failure in Hb Bart's fetuses. Moreover, this information may be used to predict the cardiac function before the development of hydrops fetalis...
March 1, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28265962/treatment-of-fetal-supraventricular-tachycardia
#4
REVIEW
Bridget B Zoeller
Fetal arrhythmia is a common reason for referral to fetal cardiology. Fetal supraventricular tachycardia can be subdivided into several groups with the most common being re-entrant supraventricular tachycardia and atrial flutter. Fetal tachycardia can lead to hydrops fetalis, which increases the risk of fetal demise, perinatal morbidities, and premature delivery. The diagnosis of fetal tachycardia can be a challenge as a traditional electrocardiogram cannot be completed on a fetus, and other methods must be used by fetal echocardiogram...
January 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28258976/congenital-pulmonary-lymphangiectasia
#5
Shi-Min Yuan
Congenital pulmonary lymphangiectasia (CPL) is a rare but fatal disease, usually having an onset from the first few hours to days after birth. Inconsistent nomenclatures were used for CPL in the past decades. Patients often present with intractable respiratory failure, hydrops fetalis and even sudden death. The etiologies of CPL remain unclear. Previous hypotheses suggested that CPL might be caused by conditions preventing normal regression of the lymphatics after the 18th-20th week of gestation. Up-to-date biological studies on lymphatic development, lymphatic valve formation and occurrence of hydrops fetalis revealed possible causative relations with mutations of genes of the vascular endothelial growth factor receptor (VEGFR), RAS/MAPK, PI3K/AKT and NF-κB signaling pathways...
March 4, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28212097/design-and-testing-of-a-transcutaneous-rf-recharging-system-for-a-fetal-micropacemaker
#6
Adriana N Vest, Li Zhou, Xuechen Huang, Viktoria Norekyan, Yaniv Bar-Cohen, Ramen H Chmait, Gerald Eli Loeb
We have developed a rechargeable fetal micropacemaker in order to treat severe fetal bradycardia with comorbid hydrops fetalis. The necessarily small form factor of the device, small patient population, and fetal anatomy put unique constraints on the design of the recharging system. To overcome these constraints, a custom high power field generator was built and the recharging process was controlled by utilizing pacing rate as a measure of battery state, a feature of the relaxation oscillator used to generate stimuli...
April 2017: IEEE Transactions on Biomedical Circuits and Systems
https://www.readbyqxmd.com/read/28180938/compound-heterozygous-gata5-mutations-in-a-girl-with-hydrops-fetalis-congenital-heart-defects-and-genital-anomalies
#7
Maja Hempel, Teresa Casar Tena, Thilo Diehl, Martina S Burczyk, Tim M Strom, Christian Kubisch, Melanie Philipp, Davor Lessel
GATA5 belongs to the GATA family of transcription factors characterized by highly evolutionarily conserved zinc-finger DNA-binding domains. Mouse models have implicated a role of GATA5 during mammalian embryogenesis, including proper heart development and gender-specific regulation of female genitourinary tract formation. Previous studies have found an association of heterozygous missense alterations in GATA5 with a broad variety of heart diseases; however, the clinical relevance of the identified susceptibility variants has remained unclear...
February 8, 2017: Human Genetics
https://www.readbyqxmd.com/read/28180200/acoustic-radiation-force-impulse-elastosonography-of-placenta-in-maternal-red-blood-cell-alloimmunization-a-preliminary-and-descriptive-study
#8
Orkun Cetin, Erbil Karaman, Harun Arslan, Ibrahim Akbudak, Recep Yıldızhan, Ali Kolusarı
AIMS: Maternal red blood cell alloimmunization is an important cause of fetal morbidity and mortality in the perinatal period, despite well-organized prophylaxis programs. The objective of the study was to evaluate placental elasticity by using Acoustic Radiation Force Impulse (ARFI) in Rhesus (Rh) alloimmunized pregnant women with hydropic and nonhydropic fetuses and to compare those with healthy pregnant women. MATERIAL AND METHODS: This case-control and descriptive study comprised twenty-eight healthy pregnant women, 14 Rh alloimmunized pregnant women with nonhydropic fetuses, and 16 Rh alloimmunized pregnant women with hydropic fetuses in the third trimester of pregnancy...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28174644/interstitial-deletion-of-chromosome-1-1p21-1p12-in-an-infant-with-congenital-diaphragmatic-hernia-hydrops-fetalis-and-interrupted-aortic-arch
#9
Masitah Ibrahim, Matthew Hunter, Lucy Gugasyan, Yuen Chan, Atul Malhotra, Arvind Sehgal, Kenneth Tan
We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.
February 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28064267/chemical-pleurodesis-with-oxytetracycline-in-congenital-chylothorax
#10
Alpana Utture, Vinayak Kodur, Jayashree Mondkar
BACKGROUND: Congenital chylothorax is an accumulation of chyle in the pleural space that may present in neonatal period with respiratory distress. CASE CHARACTERISTICS: A 34-week preterm who presented with massive congenital chylothorax complicated with hydrops fetalis. OUTCOME: The neonate was treated successfully by pleurodesis with Oxytetracycline. MESSAGE: Pleurodesis with oxytetracycline seems to be effective in treatment of congenital chylothorax...
December 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/28057638/an-international-registry-of-survivors-with-hb-bart-s-hydrops-fetalis-syndrome
#11
REVIEW
Duantida Songdej, Christian Babbs, Douglas R Higgs
Hemoglobin (Hb) Bart's hydrops fetalis syndrome (BHFS) resulting from α(0)-thalassemia is considered a universally fatal disorder. However, over the last 3 decades, improvements in intrauterine interventions and perinatal intensive care have resulted in increasing numbers of BHFS survivors. We have initiated an international registry containing information on 69 patients, of which 31 are previously unpublished. In this perspective, we analyze the available clinical information to document the natural history of BHFS...
March 9, 2017: Blood
https://www.readbyqxmd.com/read/28043830/fetal-primary-cardiac-tumors-during-perinatal-period
#12
REVIEW
Shi-Min Yuan
Fetal primary cardiac tumors are rare, but they may cause complications, which are sometimes life threatening, including arrhythmias, hydrops fetalis, ventricular outflow/inflow obstruction, cardiac failure, and even sudden death. Among fetal primary cardiac tumors, rhabdomyomas are most common, followed by teratomas, fibromas, hemangiomas, and myxomas. Everolimus, a mammalian target of rapamycin inhibitor, has been reported to be an effective drug to cause tumor remission in three neonates with multiple cardiac rhabdomyomas...
October 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28040135/pallister-killian-syndrome-cytogenetics-and-molecular-investigations-of-mosaic-tetrasomy-12p-in-prenatal-chorionic-villus-and-in-amniocytes-strategy-of-prenatal-diagnosis
#13
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino
OBJECTIVE: Pallister-Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27981786/diagnosis-of-common-hemoglobinopathies-among-south-east-asian-population-using-capillary-isoelectric-focusing-system
#14
H Srivorakun, G Fucharoen, K Sanchaisuriya, S Fucharoen
INTRODUCTION: We have evaluated an automated capillary isoelectric focusing (cIEF)-based Hb analyzer in diagnosis of hemoglobinopathies commonly found among South East Asian population. METHODS: Study was performed on a cohort of 665 adult Thai subjects and 13 fetal blood specimens obtained at routine thalassemia diagnostic laboratory. Hb analysis was performed using the cIEF system. Thalassemia genotypes were defined by DNA analysis. RESULTS: The system revealed satisfactorily within-run and between-run precision for quantitation of Hb A2 and Hb E (CV: 0...
February 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27956203/syphilis-during-pregnancy-a-preventable-threat-to-maternal-fetal-health
#15
REVIEW
Martha W F Rac, Paula A Revell, Catherine S Eppes
Syphilis remains the most common congenital infection worldwide and has tremendous consequences for the mother and her developing fetus if left untreated. Recently, there has been an increase in the number of congenital syphilis cases in the United States. Thus, recognition and appropriate treatment of reproductive-age women must be a priority. Testing should be performed at initiation of prenatal care and twice during the third trimester in high-risk patients. There are 2 diagnostic algorithms available and physicians should be aware of which algorithm is utilized by their testing laboratory...
December 9, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27943499/prenatal-diagnosis-and-prognosis-of-accelerate-idioventricular-rhythm
#16
Jean-Claude Fouron, Ariane McNeal-Davidson, Sylvia Abadir, Anne Fournier, Jean-Luc Bigras, Christine Boutin, Myriam Brassard, Marie-Josée Raboisson, Nicolaas van Doesburg, Annie Berger, Sophie Brisebois, Roxanne Gendron
OBJECTIVES: Since postnatal identification of accelerated idioventricular rhythm (AIVR) is essentially based on specific electrocardiographic patterns, its prenatal diagnosis is challenging and its genuine incidence undetermined. Therefore the objectives of this study are: 1) To evaluate the performance of specific ultrasonographic approaches in intrauterine identification of cardiocirculatory events linked to electrocardiographic signs of AIVR, including its left or right ventricular origin, and 2) To assess the prenatal prognosis of the arrhythmia...
December 10, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#17
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
#18
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
#19
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...
February 2017: 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
#20
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...
December 2016: Prenatal Diagnosis
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