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Pediatric Hydrops Fetalis

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Prenatal Treatment of Congenital Cytomegalovirus with Valganciclovir: a Case Report.

Anna E DeNoble, Frances M Saccoccio, Sallie R Permar, Brenna L Hughes,

Cytomegalovirus is the most common congenital infection and infectious cause of fetal anomaly and neurologic injury. However, treatment strategies for congenital CMV (cCMV) infection during pregnancy remain elusive. We report a case of hydrops fetalis secondary to cCMV infection with minimal sequelae after maternal and subsequent neonatal treatment with valganciclovir. ... Read more >>

Clin. Infect. Dis. (Clinical infectious diseases : an official publication of the Infectious Diseases Society of America)
[2020, :]

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Rapid detection by hydrops panel of Noonan syndrome with PTPN11 mutation (p.Thr73Ile) and persistent thrombocytopenia.

Mascha Schönfeld, Mareike Selig, Alexandra Russo, Christine Lindner, Christoph Kampmann, Eva Mildenberger, Catharina Whybra,

BACKGROUND:Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool was developed. The female premature baby in ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, :e1174]

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Rare cause of emergency in the first week of life: congenital hepatoblastoma (case report).

Gloria Ha Young Yoo, Veronica Mugarab-Samedi, Gregory Hansen, Grant Miller, Laurence Givelichian, Kaarthigeyan Kalaniti, Sibasis Daspal,

During the first week of life, a sudden deterioration in a newborn commonly includes investigations to rule out infections, lung pathologies, cardiac lesions, neurological insults, metabolic disorders or gastrointestinal emergencies. It is unusual, however, to consider malignancy as the primary causative factor. In this case report, we describe a rare ... Read more >>

Oxf Med Case Reports (Oxford medical case reports)
[2020, 2020(2):omaa002]

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Prenatal Diagnosis and Management of a Rare Central Tendon Defect Type of Congenital Diaphragmatic Hernia with a Massive Pericardial Effusion.

Inas Babic, Haifa Al-Jobair, Osama Al Towaijri, Huda Al-Shammary, Merna Atiyah, Jamal Al Hudhaif, Amer Ammari,

The central tendon defect type of congenital diaphragmatic hernia (CDH) is extremely rare and usually associated with a significant pericardial effusion. Prenatal diagnostic ultrasound features of this quite rare entity remain often overlooked or misdiagnosed. There is a dearth of literature about the role of prenatal intervention, often through an ... Read more >>

Case Rep Obstet Gynecol (Case reports in obstetrics and gynecology)
[2020, 2020:6798253]

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Perinatal Management of Bart's Hemoglobinopathy: Paradoxical Effects of Intrauterine, Transplacental, and Partial Exchange Transfusions.

Mark Curran, Michel Mikhael, Wang-Dar Sun, Jina Lim, Anna Leung, Gira Morchi, Ramen H Chmait,

We describe a fetus at 24 3/7 weeks' gestation that showed ultrasound evidence of anemia, hydrops, and severe growth restriction. Both parents were known to be cis heterozygous carriers for SEA α-thalassemia deletion (αα/-). Cordocentesis confirmed fetal anemia and homozygous α-thalassemia (-/-) in the fetus. Fetal intrauterine transfusions corrected the ... Read more >>

AJP Rep (AJP reports)
[2020, 10(1):e11-e14]

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Propranolol for the Treatment of Lymphatic Malformations in a Neonate - A Case Report and Review of Literature.

Caren J Liviskie, Colleen C Brennan, Christopher C McPherson, Zachary A Vesoulis,

Lymphatic malformations in neonates often manifest as a chylothorax, and although rare, morbidity and mortality can be significant. First-line treatment with medium-chain triglyceride-enriched formulas, or enteric rest with total parenteral nutrition, are not always successful. We describe the case of a premature neonate with trisomy 21 who presented with bilateral ... Read more >>

J Pediatr Pharmacol Ther (The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG)
[2020, 25(2):155-162]

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Isolated anti-Ro/La antibody-negative fetal complete atrioventricular block: a case report.

Huan-Huan Huo, Ya-Juan Wei, Yan-Hua Qi, Bao-Min Liu,

Chin. Med. J. (Chinese medical journal)
[2020, 133(1):97-98]

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Prenatally Diagnosed Congenital Ventricular Outpouchings: An Institutional Experience and Review of the Literature.

Jacqueline M Shuplock, Ann Kavanaugh-McHugh, David Parra,

Congenital ventricular outpouchings (CVOs) are rare congenital heart defects with limited data regarding prognosis and outcomes. We aimed to describe the characteristics, outcomes and factors associated with morbidity and mortality of prenatally diagnosed CVOs using our institutional experience and a review of published cases. A total of 86 cases of ... Read more >>

Pediatr Cardiol (Pediatric cardiology)
[2020, 41(2):272-281]

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Meconium Peritonitis: A Rare Treatable Cause of Non-Immune Hydrops.

Usha Devi Rajendran, Jeyanthi Govindarajan, Umamaheswari Balakrishnan, Ashok Chandrasekaran, Prakash Amboiram,

Meconium peritonitis as a cause of non-immune hydrops in neonates is rarely reported. Here we report such a rare occurrence. In our case, a routine antenatal scan at 25 weeks revealed isolated ascites. By 31 weeks of gestation, all features of hydrops were observed in scans. However, antenatal workup for ... Read more >>

Pediatr Gastroenterol Hepatol Nutr (Pediatric gastroenterology, hepatology & nutrition)
[2019, 22(6):576-580]

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Fetal therapies as standard prenatal care in Japan.

Haruhiko Sago, Seiji Wada,

With recent advances in fetal medicine, various attempts have been made to save fetuses facing perinatal death or devastating consequences despite optimal management after birth. The concept of the fetus as a patient has been established through the application of in utero treatments. This paper reviews fetal therapies in order ... Read more >>

Obstet Gynecol Sci (Obstetrics & gynecology science)
[2020, 63(2):108-116]

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Weights of Fetal Membranes and Umbilical Cords: Correlation With Placental Pathology.

Lucy X Ma, Daniel Levitan, Rebecca N Baergen,

INTRODUCTION:Proper placental gross examination requires weighing the placental disc trimmed of fetal membranes and the umbilical cord. However, untrimmed placental weights are often reported, both in cases submitted for consultation and in publications. Thus, determining the contribution of membranes and cords to untrimmed placental weights would be helpful in estimating ... Read more >>

Pediatr. Dev. Pathol. (Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society)
[2019, :1093526619889460]

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Risk factors of meconium-related ileus in very low birth weight infants: patients-control study.

Jeik Byun, Ji-Won Han, Joong Kee Youn, Hee-Beom Yang, Seung Han Shin, Ee-Kyung Kim, Hyun-Young Kim, Sung-Eun Jung,

Very low birth weight (VLBW) neonates experience various problems, including meconium-related ileus (MRI). This study investigated the risk factors of MRI and surgical MRI in VLBW infants. VLBW neonates admitted to the Neonatal Intensive Care Unit of Seoul National University Children's Hospital from October 2002 to September 2016 were included ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):4674]

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Congenital yellow nail syndrome presenting with eyelid lymphedema and fetal hydrops.

Jihane El Alami, Lionel Galicier, Sandra Huynh, Laure Frumholtz, Martine Bagot, Adèle de Masson, Stéphane Vignes, Jean-David Bouaziz,

JAAD Case Rep (JAAD case reports)
[2019, 5(11):1010-1012]

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Sacrococcygeal Teratoma: Clinical Characteristics, Management, and Long-term Outcomes in a Prospective Study from a Tertiary Care Center.

Devendra Kumar Yadav, Samir Kant Acharya, Deepak Bagga, Vishesh Jain, Anjan Dhua, Prabudh Goel,

Introduction:The study focuses on the clinical presentation, management, and outcomes (both short term and long term) in patients with sacrococcygeal teratoma managed over a decade in a tertiary care center. Materials and Methods:This is a prospective study on children with sacrococcygeal teratoma over 12 years data collected included antenatal diagnosis, ... Read more >>

J Indian Assoc Pediatr Surg (Journal of Indian Association of Pediatric Surgeons)
[2020, 25(1):15-21]

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Successful Extracorporeal Membrane Oxygenation After Incidental Azygos Vein Cannulation in a Neonate With Right-Sided Congenital Diaphragmatic Hernia Interruption of the Inferior Vena Cava and Azygos Continuation.

Alessandra Mayer, Genny Raffaeli, Federico Schena, Valeria Parente, Gabriele Sorrentino, Francesco Macchini, Anna Maria Colli, Lucia Mauri, Simona Neri, Irene Borzani, Ernesto Leva, Fabio Mosca, Giacomo Cavallaro,

Incidental azygos vein cannulation has been reported in a few cases of neonatal extracorporeal membrane oxygenation (ECMO). This complication is described in the literature mainly in pathological conditions wherein increased central venous pressure dilates the superior vena cava (SVC), i.e., right congenital diaphragmatic hernia (CDH) or pulmonary hypertension. Azygos vein ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:444]

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Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases.

Brett D. Story, Matthew E. Miller, Allison M. Bradbury, Emily D. Million, Dongsheng Duan, Toloo Taghian, Dominik Faissler, Deborah Fernau, Sidney J. Beecy, Heather L. Gray-Edwards,

Mouse models of human disease remain the bread and butter of modern biology and therapeutic discovery. Nonetheless, more often than not mouse models do not reproduce the pathophysiology of the human conditions they are designed to mimic. Naturally occurring large animal models have predominantly been found in companion animals or ... Read more >>

Front Vet Sci (Frontiers in Veterinary Science)
[2020, 7:]

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Mirror Syndrome with Severe Postpartum Presentation following Stillbirth and Shoulder Dystocia.

Pawel Bartnik, Joanna Kacperczyk-Bartnik, Aneta Malinowska-Polubiec, Ewa Romejko-Wolniewicz,

Background: Mirror syndrome (MS) is a pregnancy-related condition characterized by fetal, placental and maternal edema. Methods: We report a case of MS with severe postpartum presentation following stillbirth, shoulder dystocia, McRoberts maneuver, anterior shoulder disimpaction and manual posterior shoulder delivery together with serum soluble fms-like tyrosine kinase 1 (sFlt-1)/placental growth ... Read more >>

Fetal Pediatr Pathol (Fetal and pediatric pathology)
[2019, :1-5]

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Fetal Cardiac Intervention in Critical Aortic Stenosis with Severe Mitral Regurgitation, Severe Left Atrial Enlargement, and Restrictive Foramen Ovale.

Michael R Mallmann, Ulrike Herberg, Ingo Gottschalk, Brigitte Strizek, Astrid Hellmund, Annegret Geipel, Johannes Breuer, Ulrich Gembruch, Christoph Berg,

OBJECTIVE:To assess the intrauterine course and outcome of fetal cardiac intervention (FCI) in fetuses with critical aortic stenosis (CAS), severe mitral regurgitation (MR), severe left atrial dilatation (LAD), and restrictive foramen ovale (RFO) or intact atrial septum. METHODS:All fetuses with a prenatal diagnosis of CAS, severe MR, severe LAD, and ... Read more >>

Fetal. Diagn. Ther. (Fetal diagnosis and therapy)
[2019, :1-8]

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Massive Fetal Transfusion During an Emergency Ex Utero Intrapartum Treatment for a Congenital Infantile Fibrosarcoma: A Case Report.

Andrew S Oster, Eduardo Reina, James J Fehr, Robert P Moore, Thomas E Cox, Preeta George,

Although originally described to assist airway management of fetal congenital malformations with life-threatening airway obstruction, the indications for an ex utero intrapartum treatment (EXIT) have expanded to include surgical resection of lesions that are potentially incompatible with life in the absence of uteroplacental circulatory support. We describe the case of ... Read more >>

A A Pract (A&A practice)
[2019, 13(7):267-270]

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Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report.

Eun Jae Ko, In Young Sung, Han-Wook Yoo,

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (CP). She had spasticity, particularly at both ... Read more >>

Ann Rehabil Med (Annals of rehabilitation medicine)
[2019, 43(5):621-624]

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Infantile onset Pompe disease presenting with non-immune hydrops fetalis.

Kristen Lee, Rachel Fisher, Shane C Quinonez, Ayesha Ahmad,

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2019, 21:100503]

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Induction of left ventricular hypoplasia by occluding the foramen ovale in the fetal lamb.

Flora Y Wong, Alex Veldman, Arun Sasi, Mark Teoh, Andrew Edwards, Yuen Chan, Oliver Graupner, Christian Enzensberger, Roland Axt-Fliedner, Mary Jane Black, Dietmar Schranz,

Disturbed fetal haemodynamics often affects cardiac development and leads to congenital cardiac defects. Reduced left ventricular (LV) preload in the fetus may result in hypoplastic LV, mitral and aortic valve, mimicking a moderate form of hypoplastic left heart complex. We aimed to induce LV hypoplasia by occluding the foramen ovale ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):880]

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Bochdalek hernia with Diamond-Blackfan anemia associated with RPS19 gene mutation: A case report.

Ye Seul Yoo, Na Hee Lee, Young Bae Choi,

RATIONALE:Diamond-Blackfan anemia (DBA) is a rare inherited marrow disorder, characterized by erythrocyte aplasia and is associated with congenital anomalies and a susceptibility to cancer. Although congenital abnormalities have been observed in ∼50% of DBA patients, the occurrence of an associated congenital diaphragmatic hernia (CDH) has rarely been reported. PATIENT CONCERNS:A ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(39):e17337]

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Antenatal Therapy for Fetal Supraventricular Tachyarrhythmias: Multicenter Trial.

Takekazu Miyoshi, Yasuki Maeno, Toshimitsu Hamasaki, Noboru Inamura, Satoshi Yasukochi, Motoyoshi Kawataki, Hitoshi Horigome, Hitoshi Yoda, Mio Taketazu, Masaki Nii, Akiko Hagiwara, Hitoshi Kato, Wataru Shimizu, Isao Shiraishi, Heima Sakaguchi, Keiko Ueda, Shinji Katsuragi, Haruko Yamamoto, Haruhiko Sago, Tomoaki Ikeda, ,

BACKGROUND:Standardized treatment of fetal tachyarrhythmia has not been established. OBJECTIVES:This study sought to evaluate the safety and efficacy of protocol-defined transplacental treatment for fetal supraventricular tachycardia (SVT) and atrial flutter (AFL). METHODS:In this multicenter, single-arm trial, protocol-defined transplacental treatment using digoxin, sotalol, and flecainide was performed for singleton pregnancies from ... Read more >>

J. Am. Coll. Cardiol. (Journal of the American College of Cardiology)
[2019, 74(7):874-885]

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Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene.

Wing-Shan Q See, Chi-Chiu J So, Daniel Ka-Leung Cheuk, Richard van Wijk, Shau-Yin Ha,

Glucose phosphate isomerase (GPI) deficiency is the second most common red blood cell enzymopathy involving the glycolysis pathway. It is an autosomal recessive disorder. Chronic hemolytic anemia is a common manifestation. The most severe one can present as hydrops fetalis. It can also be associated with neurological dysfunction. We report ... Read more >>

J. Pediatr. Hematol. Oncol. (Journal of pediatric hematology/oncology)
[2019, :]

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