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https://www.readbyqxmd.com/read/28101432/atypical-hemolytic-uremic-syndrome-in-first-trimester-pregnancy-successfully-treated-with-eculizumab
#1
Gabriela Andries, Michael Karass, Srikanth Yandrapalli, Katherine Linder, Delong Liu, John Nelson, Rahul Pawar, Savneek Chugh
BACKGROUND: Atypical hemolytic uremic syndrome is a rare disorder which is known to cause acute thrombotic microangiopathy during pregnancy with poor maternal and fetal outcomes. Atypical hemolytic uremic syndrome is caused mostly by dysregulation of alternative complement pathway secondary to genetic mutations. Most of the cases reported have been in the post-partum period. We report a rare case of a patient who presents with thrombotic microangiopathy in the first trimester of her eleventh pregnancy and was successfully treated with eculizumab...
2017: Experimental Hematology & Oncology
https://www.readbyqxmd.com/read/28098879/cytokines-inducers-and-inhibitors-modulate-mmp-2-and-mmp%C3%A2-9-secretion-by-human-fanconi-anemia-immortalized-fibroblasts
#2
M W Roomi, T Kalinovsky, M Rath, A Niedzwiecki
Acute myeloid leukemia and head and neck squamous cell carcinomas are the major causes of mortality and morbidity in Fanconi anemia (FA) patients. Matrix metalloproteinases (MMPs), particularly MMP-2 and MMP-9, have been implicated in tumor invasion and metastasis. Various cytokines, mitogens, growth factors, inducers and inhibitors control MMP activities. We investigated the roles of these in the regulation of MMP-2 and MMP-9 in human immortalized fibroblasts from FA. Human FA immortalized fibroblast cell lines FA-A:PD220 and FA-D2:PD20 were grown in minimum essential medium (MEM) supplemented with 15% fetal bovine serum (FBS) and antibiotics in 24-well tissue culture plates...
January 16, 2017: Oncology Reports
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#3
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28034892/how-i-treat-anemia-in-pregnancy-iron-cobalamin-and-folate
#4
Maureen M Achebe, Anat Gafter-Gvili
Anemia of pregnancy is considered a global health problem, affecting almost 50% of pregnant women. Anemia is an important risk factor for both fetal and maternal morbidity. The purpose of this article is to discuss diagnosis and management of the most frequent causes of anemia in pregnancy: iron, cobalamin and folate deficiencies. This paper considers three clinical cases. Iron deficiency is the most common cause. The laboratory tests that define iron deficiency, the recognition of developmental delays and cognitive abnormalities in iron-deficient neonates and the literature addressing the efficacy and safety of intravenous iron in pregnancy are reviewed...
December 29, 2016: Blood
https://www.readbyqxmd.com/read/28031963/folic-acid-supplementation-what-is-new-fetal-obstetric-long-term-benefits-and-risks
#5
REVIEW
Hind N Moussa, Susan Hosseini Nasab, Ziad A Haidar, Sean C Blackwell, Baha M Sibai
The association between folic acid supplementation, prior to conception and/or during pregnancy and pregnancy outcomes, has been the subject of numerous studies. The worldwide recommendation of folic acid is at least 0.4 mg daily for all women of reproductive age, and 4-5 mg in high-risk women. In addition, evidence shows that folic acid supplementation could modulate other adverse pregnancy outcomes, specifically, in pregnancies complicated by seizure disorders, preeclampsia, anemia, fetal growth restriction and autism...
June 2016: Future Science OA
https://www.readbyqxmd.com/read/28002522/primary-retroperitoneal-seminoma-embryology-histopathology-and-treatment-particularities
#6
Constantin Virgil Gîngu, Mihaela Mihai, Cătălin Baston, Mugurel Alexandru Crăsneanu, Alexandru Vladimir Dick, Vlad Olaru, Ioanel Sinescu
INTRODUCTION: Retroperitoneal seminoma is a very rare form of cancer, with embryological origin represented by primordial germ cells from the urogenital ridges left behind during the fetal development. Extragenital germ cell tumors can also occur in the mediastinum or the pineal gland. The aim of this paper is to outline the particularities and draw embryological, histopatological and treatment conclusions regarding extragonadal germ cell tumors. PATIENT AND METHODS: A 43-year-old patient without any additional pathology was admitted for anemia of unknown etiology...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27998308/semilobar-holoprosencephaly-in-a-12-month-old-baby-boy-born-to-a-primigravida-patient-with-type-1-diabetes-mellitus-a-case-report
#7
Pedro Pallangyo, Frederick Lyimo, Paulina Nicholaus, Hilda Makungu, Maria Mtolera, Isaac Mawenya
BACKGROUND: Holoprosencephaly is a rare spectrum of cephalic disorders resulting from a failure or incomplete division of the embryonic forebrain into distinct cerebral hemispheres. It is the most common brain malformation with an incidence of 1:250 during embryogenesis; however, owing to the associated high rates of spontaneous abortion the incidence is 1:16,000 among live deliveries. Pathogenesis of holoprosencephaly is complex and heterogeneous involving genetic abnormalities, teratogenic exposures, and syndromic associations...
December 20, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27994991/dynamics-of-a-pregnancy-when-two-become-four-a-case-report-and-literature-review
#8
Murid Javed, Nareman Altorairi, Hamad Alsufyan
The incidence of pregnancies with multiple gestational sacs has increased with the use of assisted reproductive technology because more than one embryo is frequently transferred. The splitting of one or more embryos further complicates the pregnancy. Some of these complications include intrauterine fetal death, growth restriction, discordant birth weight, and preterm delivery. Monozygotic twins suffer from a few unique complications including twin-twin transfusion syndrome, twin reversed arterial perfusion sequence, and twin anemia-polycythemia sequence...
November 11, 2016: Curēus
https://www.readbyqxmd.com/read/27956203/syphilis-during-pregnancy-a-preventable-threat-to-maternal-fetal-health
#9
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/27934616/pregnancy-and-cirrhosis-four-cases-at-the-lome-campus-university-teaching-hospital-togo
#10
A Bagny, D A E Akolly, L M Lawson-Ananisoh, O Bouglouga, B Douaguibe, R El Hadji Yacoubou, S Koffi, K Lawson Evi, K M Guedenon, Y D Atakouma, K Akpadza, D Redah
To evaluate the hepatic and obstetric complications in pregnant women with cirrhosis. We report the cases of four pregnant women with cirrhosis treated in the gastroenterology and obstetrics-gynecology departments of the Lome Campus University Teaching Hospital between 2013 and 2015. The women's mean age was 32 years. Three were in the first trimester of pregnancy. Almost all had signs of advanced cirrhosis, including ascites (50%), lower-limb edema (75%), and jaundice (25%). All (100%) had liver failure and anemia...
December 8, 2016: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/27915139/impairment-of-fetal-hematopoietic-stem-cell-function-in-the-absence-of-fancd2
#11
Sakiko Suzuki, Ronny R Racine, Nathan A Manalo, Sharon B Cantor, Glen D Raffel
Fanconi anemia (FA) results from mutations in the genes necessary for DNA damage repair and often leads to progressive bone marrow failure. Although the exhaustion of the bone marrow leads to cytopenias in FA patients as they age, evidence from human FA and mouse model fetal livers suggests that hematopoietic defects originate in utero, which may lead to deficient seeding of the bone marrow. To address this possibility, we examined the consequences of loss of Fancd2, a central component of the FA pathway. Examination of embryonic day 14...
December 1, 2016: Experimental Hematology
https://www.readbyqxmd.com/read/27912030/perinatal-outcomes-and-the-influence-of-maternal-characteristics-after-roux-en-y-gastric-bypass-surgery
#12
Cristiane Chagas, Cláudia Saunders, Silvia Pereira, Jacqueline Silva, Carlos Saboya, Andréa Ramalho
OBJECTIVE: Assess the perinatal outcomes and identify what maternal characteristics can influence them in women who had undergone Roux-en-Y gastric bypass (RYGB). MATERIALS AND METHODS: Analytical, prospective, and longitudinal study with pregnant adult women. INCLUSION CRITERIA: chronological age >20 years; singleton pregnancy; RYGB surgery before pregnancy. EXCLUSION CRITERIA: prior malabsorptive or restrictive surgeries; malabsorption syndrome...
January 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/27872735/fetal-hemoglobin-modifies-the-disease-manifestation-of-severe-plasmodium-falciparum-malaria-in-adult-patients-with-sickle-cell-anemia
#13
Prasanta Purohit, Siris Patel, Pradeep Kumar Mohanty, Padmalaya Das, Jogeswar Panigrahi
No abstract text is available yet for this article.
2016: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/27863915/prenatal-ultrasound-monitoring-of-homozygous-%C3%AE-0-thalassemia-induced-fetal-anemia
#14
REVIEW
Helena H L Lee, Annisa S L Mak, C F Poon, K Y Leung
A noninvasive approach by serial ultrasound examination at 12-15, 18, and 30 weeks of gestation can be used to exclude homozygous α(0)-thalassemia-induced fetal anemia. At 12-15 weeks of gestation, the predictive values for the fetal cardio-thoracic ratio were better than that for the placental thickness. At 16-20 weeks of gestation, measuring middle cerebral artery peak systolic velocity is associated with a low false-positive rate. However, the false-positive rate of this noninvasive approach can be about 3%, requiring an invasive test to confirm the diagnosis...
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
#15
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
https://www.readbyqxmd.com/read/27855647/albuminuria-serum-antioxidant-enzyme-levels-and-markers-of-hemolysis-and-inflammation-in-steady-state-children-with-sickle-cell-anemia
#16
Karen E Itokua, Jean Robert Makulo, François B Lepira, Michel N Aloni, Pépé M Ekulu, Ernest K Sumaili, Justine B Bukabau, Vieux M Mokoli, Augustin L Longo, François M Kajingulu, Chantal V Zinga, Yannick M Nlandu, Yannick M Engole, Pierre Z Akilimali, René M Ngiyulu, Jean Lambert Gini, Nazaire M Nseka
BACKGROUND: Oxidative stress is thought to be involved in the pathogenesis of microalbuminuria in Sickle cell anemia (SCA). Antioxidant enzymes such as glutathione peroxidase (GPx) and Cu-Zn superoxide dismutase (SOD) may play an important protective role. This study aimed to evaluate the association between albuminuria and these two antioxidant enzymes. METHODS: We consecutively recruited Steady state children aged between 2 and 18 years old with established diagnosis of homozygous SCA in two hospitals of Kinshasa/DR Congo...
November 17, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27831662/loss-of-the-tgf-%C3%AE-effector-%C3%AE-2sp-promotes-genomic-instability
#17
Jian Chen, Vivek Shukla, Patrizia Farci, Jaclyn Andricovich, Wilma Jogunoori, Lawrence N Kwong, Lior H Katz, Kirti Shetty, Asif Rashid, Xiaoping Su, Jon White, Lei Li, Alan Yaoqi Wang, Boris Blechacz, Gottumukkala S Raju, Marta Davila, Bao-Ngoc Nguyen, John R Stroehlein, Junjie Chen, Sang Soo Kim, Heather Levin, Keigo Machida, Hidekazu Tsukamoto, Peter Michaely, Alexandros Tzatsos, Lopa Mishra
Exposure to genotoxins such as ethanol-derived acetaldehyde leads to DNA damage and liver injury, and promotes the development of cancer. We report here a major role for the TGF-β/Smad3 adaptor β2-Spectrin (β2SP, gene Sptbn1) in maintaining genomic stability following alcohol-induced DNA damage. β2SP supports DNA repair through β2SP-dependent activation of Fancd2, a core component of the Fanconi anemia complex. Loss of β2SP leads to decreased Fancd2 levels and sensitizes β2SP mutants to DNA damage by ethanol treatment, leading to phenotypes that closely resemble those observed in animals lacking both Aldh2 and Fancd2, and resemble human fetal alcohol syndrome...
November 5, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/27821986/obesity-or-underweight-what-is-worse-in-pregnancy
#18
Sumi Agrawal, Abha Singh
OBJECTIVE: This study was conducted to compare underweight and obese women and their weight gain during pregnancy on fetomaternal outcome. METHOD: This is a prospective, non-interventional, observational study on 1000 women (BMI between 20 and 30 were excluded). Women attending ANC OPD with singleton pregnancy at or before 16 weeks were included and BMI calculated in early pregnancy. Their weight gain during pregnancy was noted. Any complications in the mother or perinate were noted...
December 2016: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/27807866/a-jordanian-family-with-three-sisters-apparently-homozygous-for-m-k-and-evidence-for-clinical-significance-of-antibodies-produced-by-m-k-m-k-individuals
#19
Nour Al-Huda Al-Jada
BACKGROUND: The rare M(k) M(k) phenotype is the result of a deletion of the coding regions of both GYPA and GYPB. Red blood cells (RBCs) of individuals homozygous for the rare M(k) gene lack all MNS blood group antigens and have no glycophorin A or glycophorin B. This phenotype is extremely rare and only four families have been reported. CASE REPORT: A 28-year-old woman was referred for assessment of recurrent early neonatal deaths. She was found to be apparently homozygous for M(k) ...
November 3, 2016: Transfusion
https://www.readbyqxmd.com/read/27796940/etiology-clinical-profile-and-outcome-of-liver-disease-in-pregnancy-with-predictors-of-maternal-mortality-a-prospective-study-from-western-india
#20
Dattatray Solanke, Chetan Rathi, Vikas Pandey, Mallanagoud Patil, Aniruddha Phadke, Prabha Sawant
BACKGROUND: The aim of this study is to study the etiology, clinical profile, and prognostic factors related to maternal and fetal health in pregnant patients with liver disease in Western India. METHODS: This study included 103 consecutive pregnant patients with liver dysfunction from August 2013 to July 2015, who underwent regular biochemical tests, viral markers, ultrasound of abdomen, etc. and were followed up for 6 weeks postpartum or until death. RESULTS: Pregnancy-specific causes of liver dysfunction were found in 39 % (40/103) patients...
November 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
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