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https://www.readbyqxmd.com/read/29625861/-targeted-newborn-screening-for-sickle-cell-anemia-sickling-test-emmel-test-boundaries-in-the-prenatal-assessment-in-west-african-area
#1
D A Diallo, A Guindo, B A Touré, Y S Sarro, M Sima, O Tessougué, M A Baraika, P Guindo, M Traoré, M Diallo, A Dorie
BACKGROUND: Newborn screening for sickle cell anemia is necessary in Africa where the disease is more frequent. Hemoglobin electrophoresis is used for screening, but is limited by a high cost and difficult access. Sickling test (Emmel test), which is more affordable and technically more accessible, is often requested for prenatal assessment of pregnant women in West African areas to reserve screening for newborns from mothers in whom the positive sickling test attests the presence of hemoglobin S...
April 3, 2018: Revue D'épidémiologie et de Santé Publique
https://www.readbyqxmd.com/read/29621589/identification-of-rare-heterozygous-missense-mutations-in-fanca-in-esophageal-atresia-patients-using-next-generation-sequencing
#2
Yu Feng, Runsen Chen, Min Da, Bo Qian, Xuming Mo
Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations in newborns, but the etiology of EA/TEF remains unknown. Fanconi anemia (FA) complementation group A (FANCA) is a key component of the FA core complex and is essential for the activation of the DNA repair pathway. The middle region (amino acids 674-1208) of FANCA is required for its interaction with FAAP20. We performed targeted sequencing of this binding region of FANCA (exons 23-36) in 40 EA/TEF patients. We also investigated the effect of the p...
April 2, 2018: Gene
https://www.readbyqxmd.com/read/29614628/comorbidities-in-aging-patients-with-sickle-cell-disease
#3
Samir K Ballas
Sickle cell disease (SCD) in general and sickle cell anemia in particular is a highly complex disorder both at the molecular and clinical levels. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of the disease. Moreover, despite the fact that SCD is a chronic malady, its manifestations are both acute and chronic. The former include, among other things, the recurrent vaso-occlusive crises (its hallmark) and acute chest syndrome...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29608321/management-of-pregnancy-sensitized-with-anti-inb-with-monocyte-monolayer-assay-and-maternal-blood-donation
#4
Raj Shree, Kimberly K Ma, Lay S Er, Meghan Delaney
Maternal red blood cell (RBC) alloantibodies can cause hemolytic disease of the fetus and newborn (HDFN). Although much is described about common antibodies associated with HDFN, management of a pregnancy complicated by a maternal rare antibody presents several challenges related to assessment of fetal anemia risk, availability of blood for transfusion to the mother and/or the fetus or newborn if needed, and planning for delivery in the case of maternal hemorrhage. Here we report the laboratory medicine workup of a patient who presented for obstetrical care in the United States in the third trimester and had a rare antibody (anti-Inb)...
January 2018: Immunohematology
https://www.readbyqxmd.com/read/29593357/patterns-of-acute-bilirubin-encephalopathy-in-nigeria-a-multicenter-pre-intervention-study
#5
Udochukwu M Diala, Richard P Wennberg, Isa Abdulkadir, Zubaida L Farouk, Carlos D Coda Zabetta, Efe Omoyibo, Abieyuwa Emokpae, Aleksandr Aravkin, Bose Toma, Stephen Oguche, Tina Slusher
BACKGROUND: Acute bilirubin encephalopathy (ABE) is an important cause of neonatal morbidity in Nigeria, accounting for 5-14% of neonatal deaths. Most newborns with severe ABE have irreversible damage before receiving treatment emphasizing the need for timely pre-admission monitoring and referral. There is limited evidence that educational interventions targeting mothers and health care providers will reduce delayed care. OBJECTIVE: To provide baseline data on the incidence of ABE and associated pre-admission risk factors in five centers of Nigeria in order to evaluate the effect of subsequent educational interventions on outcome...
March 28, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29582948/-advances-in-fetal-therapy-in-complicated-monochorionic-pregnancies-and-in-severe-congenital-diaphragmatic-hernia-five-years-experience
#6
Yuval Gielchinsky, Dan V Valsky, Nili Yanai, Firas J Abdeljawad, Mazen A Muhaisen, Dan Arbell, Yehuda Ginosar, Orna Ben-Yosef, Orite Winograd, Benjamin Bar-Oz, Simcha Yagel, Smadar Eventov-Friedman
INTRODUCTION: : Minimally invasive fetal therapeutic procedures reduce the morbidity and mortality in monochorionic (MC) twins and in fetuses with congenital diaphragmatic hernia (CDH). MC pregnancies share their blood systems due to communicating vessels over their single placenta and may develop specific complications: Twin-to-Twin transfusion syndrome (TTTS), Selective intrauterine growth restriction (sIUGR), Twin Anemia-Polycythemia Sequence (TAPS), Twin Reverse Arterial Perfusion Syndrome (TRAP) or anomalies in one...
March 2018: Harefuah
https://www.readbyqxmd.com/read/29562891/correlation-between-maternal-and-umbilical-cord-blood-in-pregnant-women-of-pokhara-valley-a-cross-sectional-study
#7
Sameer Timilsina, Sirisa Karki, Aajeevan Gautam, Pujan Bhusal, Gita Paudel, Deepak Sharma
BACKGROUND: Complete blood count is one of the routinely advised blood investigation during pregnancy. It is also utilized as a diagnostic tool for neonatal anemia, sepsis and determining hemostatic status of the newborn. The present study aims at estimating the complete blood count of maternal and umbilical cord blood at the time of delivery and to establish its correlation. METHOD: This cross sectional study included 114 mothers and their healthy neonates born through normal vaginal delivery...
March 21, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29552532/the-use-of-dried-blood-spots-a-potential-tool-for-the-introduction-of-a-neonatal-screening-program-for-sickle-cell-anemia-in-zambia
#8
Nanjela Chindima, Panji Nkhoma, Musalula Sinkala, Mildred Zulu, Doris Kafita, Marah Simakando, Florence Mwaba, Hamakwa Mantina, Mubanga Mutale
Context: Sickle cell disease is a group of hemoglobin (Hb) disorders resulting from the inheritance of the sickle β-globin gene. It is the most common pathological Hb mutation worldwide with 75% being born in Sub-Saharan Africa. Aims: This study aims to determine if dried blood spots (DBSs) can be used for diagnosis of sickle cell in newborns. In Zambia, there is no neonatal screening program for sickle cell anemia (SCA), yet it has been proved that early diagnosis by newborn screening (NBS) using DBSs and access to comprehensive care results in survival to adulthood of over 96% of sickle cell patients...
January 2018: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29549173/the-clinical-spectrum-of-pyruvate-kinase-deficiency-data-from-the-pyruvate-kinase-deficiency-natural-history-study
#9
Rachael F Grace, Paola Bianchi, Eduard J van Beers, Stefan W Eber, Bertil Glader, Hassan M Yaish, Jenny M Despotovic, Jennifer A Rothman, Mukta Sharma, Melissa M McNaull, Elisa Fermo, Kimberly Lezon-Geyda, D Holmes Morton, Ellis J Neufeld, Satheesh Chonat, Nina Kollmar, Christine M Knoll, Kevin Kuo, Janet L Kwiatkowski, Dagmar Pospíŝilová, Yves D Pastore, Alexis A Thompson, Peter E Newburger, Yaddanapudi Ravindranath, Winfred C Wang, Marcin W Wlodarski, Heng Wang, Susanne Holzhauer, Vicky R Breakey, Joachim Kunz, Sujit Sheth, Melissa J Rose, Heather A Bradeen, Nolan Neu, Dongjing Guo, Hasan Al-Sayegh, Wendy B London, Patrick G Gallagher, Alberto Zanella, Wilma Barcellini
An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital non-spherocytic hemolytic anemia. Medical history and laboratory and radiologic data were retrospectively collected at enrollment in 254 patients with molecularly confirmed PK deficiency. Perinatal complications were common, including anemia requiring transfusions, hyperbilirubinemia, hydrops, and prematurity...
March 16, 2018: Blood
https://www.readbyqxmd.com/read/29546300/anemia-of-inflammation-during-human-pregnancy-does-not-affect-newborn-iron-endowment
#10
Ajibola I Abioye, Sangshin Park, Kelsey Ripp, Emily A McDonald, Jonathan D Kurtis, Hannah Wu, Sunthorn Pond-Tor, Surendra Sharma, Jan Ernerudh, Palmera Baltazar, Luz P Acosta, Remigio M Olveda, Veronica Tallo, Jennifer F Friedman
Background: To our knowledge, no studies have addressed whether maternal anemia of inflammation (AI) affects newborn iron status, and few have addressed risk factors for specific etiologies of maternal anemia. Objectives: The study aims were to evaluate 1) the contribution of AI and iron deficiency anemia (IDA) to newborn iron endowment, 2) hepcidin as a biomarker to distinguish AI from IDA among pregnant women, and 3) risk factors for specific etiologies of maternal anemia...
March 1, 2018: Journal of Nutrition
https://www.readbyqxmd.com/read/29535993/placental-transfusion-and-cardiovascular-instability-in-the-preterm-infant
#11
REVIEW
Zbynĕk Straňák, Simona Feyereislová, Peter Korček, Eugene Dempsey
Postnatal adaptation in preterm newborn comprises complex physiological processes that involve significant changes in the circulatory and respiratory system. Increasing hemoglobin level and blood volume following placental transfusion may be of importance in enhancing arterial oxygen content, increasing cardiac output, and improving oxygen delivery. The European consensus on resuscitation of preterm infants recommends delayed cord clamping (DCC) for at least 60 s to promote placenta-fetal transfusion in uncompromised neonates...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29525805/congenital-chagas-disease-in-a-bolivian-newborn-in-bergamo-italy
#12
Graziano Bargiggia, Maurizio Ruggeri, Gaia Ortalli, Simona Gabrielli, Paola Rodari, Lorenzo D'Antiga, Claudio Farina
Chagas disease (CD) is an uncommon disease in Europe. Its epidemiology has changed because of mass migration from Latin America to Europe. Herein we describe a congenital case of CD in a Bolivian newborn in Bergamo, the main city of residence for the Bolivian community in Italy. At delivery, serological analyses evidenced IgG antibodies against Trypanosoma cruzi both in the child and mother, as expected. Hemoscopic analyses on peripheral blood were repeatedly negative during the first months of life. Eventually, thanks to T...
March 1, 2018: Le Infezioni in Medicina
https://www.readbyqxmd.com/read/29512164/maternal-red-blood-cell-alloimmunization-requiring-intrauterine-transfusion-a-comparative-study-on-management-and-outcome-depending-on-the-type-of-antibody
#13
Thanh-Vy Phung, Véronique Houfflin-Debarge, Nassima Ramdane, Louise Ghesquière, Anne Delsalle, Capucine Coulon, Damien Subtil, Pascal Vaast, Charles Garabedian
BACKGROUND: The antibody primarily responsible for fetal anemia may influence treatment and prognosis. The primary objective was to compare ante- and postnatal management and the outcomes of maternal red blood cell (RBC) alloimmunizations according to the antibody involved. The secondary objective was to compare anti-D alloimmunizations according to associated number of antibodies. STUDY DESIGN AND METHODS: A single-center study from 1999 to 2015 including maternal RBC alloimmunizations requiring intrauterine transfusion (IUT) was conducted...
March 6, 2018: Transfusion
https://www.readbyqxmd.com/read/29493897/feasibility-of-integrating-calcium-and-iron-folate-supplementation-to-prevent-preeclampsia-and-anemia-in-pregnancy-in-primary-healthcare-facilities-in-kenya
#14
Moshood O Omotayo, Katherine L Dickin, David L Pelletier, Stephanie L Martin, Jacqueline K Kung'u, Rebecca J Stoltzfus
Calcium (Ca) supplementation to prevent preeclampsia can save maternal and newborn lives, but there are no program models for integration into existing antenatal care platforms. We used a program impact pathway model to guide the design of integrated Ca and iron-folate (IFA) supplementation in Kenya. We provided healthcare providers with job aids (posters and counseling cards), trained them on counseling techniques and supplementation guidelines, and developed behavior change materials for pregnant women (pill-taking calendars)...
February 2018: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/29476317/atypical-erythroblastosis-in-a-patient-with-diamond-blackfan-anemia-who-developed-del-20q-myelodysplasia
#15
Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11...
February 23, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29465435/clinical-manifestations-of-sickle-cell-disease-in-india-misconceptions-and-reality
#16
Dipty Jain, Dipika Mohanty
PURPOSE OF REVIEW: In the past, milder clinical manifestations of sickle cell disease (SCD) have been described from India. However, recent data from some parts of India suggest that the severity of the disease can be compared to that of African phenotypes. This review therefore describes the varied clinical manifestation of SCD, the success of newborn screening programme, prenatal diagnosis and low dose hydroxyurea therapy in India. RECENT FINDINGS: The varied clinical manifestations such as anemia, vaso-occlusive crisis, acute chest syndrome, renal involvement, stroke and so on vary from one part of the country to the other and also among different communities of India...
February 19, 2018: Current Opinion in Hematology
https://www.readbyqxmd.com/read/29383241/co-existing-infantile-hepatic-hemangioma-and-mesenchymal-hamartoma-in-a-neonate
#17
Nicolas Berte, Alya Filfilan, Laurence Mainard, Ludovic Mansuy, Jean-Louis Lemelle
Infantile hepatic hemangioma (IHH) and mesenchymal hamartoma (MH) form the first and second most common benign hepatic tumors in children. In this case report, we present a newborn child in whom a growing hepatic mass was discovered at the age of 7 days. She suffered also from anemia, respiratory and renal failure. No signs of heart disease or cutaneous lesions were detected. Alpha-fetoprotein was elevated for her age (3562.2 ng/ml). Imaging studies showed multifocal large cystic lesions associated with heterogeneous small solid lesions with arterial enhancement of the liver...
January 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29378146/anti-vel-alloimmunization-and-severe-hemolytic-disease-of-the-fetus-and-newborn
#18
Kenneth J Moise, Yisel Morales, Marsha F Bertholf, Susan N Rossmann, Yu Bai
Only rare cases of anti-Vel-associated mild-to-moderate hemolytic disease of the fetus and newborn have been previously reported. No case of fetal anemia requiring prenatal therapy has been noted to date. We report such a case recently encountered at our Fetal Center. Strategies are discussed for managing pregnancy complicated with alloimmunization to an antibody to a high-prevalence antigen, including sources of red blood cells for intrauterine transfusions.
December 2017: Immunohematology
https://www.readbyqxmd.com/read/29345446/the-first-south-american-case-of-pre-implantation-genetic-diagnosis-to-select-compatible-embryo-for-cord-blood-transplantation-as-treatment-for-sickle-cell-anemia
#19
Ciro D Martinhago, Kalina Rn Endo, Mariana A Oliveira, Alex Mm Dias, Gislaine S Pereira, Augusto M Azzolini, Paula Rq Estrada, Caio G Bruzaca, Ana Carolina N Martinhago
Sickle cell anemia is an inherited systemic hemoglobinopathy that affects hemoglobin production in red blood cells, leading to early morbidity and mortality. It is caused by a homozygous nucleotide substitution (c.20A>T) in the β-globin gene (HBB) that changes a glutamic acid to a valine in the protein. We present a case report of a fertile couple, both carriers of the sickle cell anemia mutation, with one affected daughter. Six cycles of assisted reproductive techniques were performed, resulting in 53 embryos in cleavage stage...
January 18, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29340523/a-case-of-severe-glutathione-synthetase-deficiency-with-novel-gss-mutations
#20
H Xia, J Ye, L Wang, J Zhu, Z He
Glutathione synthetase deficiency (GSSD) is a rare inborn error of glutathione metabolism with autosomal recessive inheritance. The severe form of the disease is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. A case of a male newborn infant who had severe metabolic acidosis with high anion gap, hemolytic anemia, and hyperbilirubinemia is reported. A high level of 5-oxoproline was detected in his urine and a diagnosis of generalized GSSD was made...
January 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
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