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https://www.readbyqxmd.com/read/29383241/co-existing-infantile-hepatic-hemangioma-and-mesenchymal-hamartoma-in-a-neonate
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/29278735/expanding-the-fanco-rad51c-associated-phenotype-cleft-lip-and-palate-and-lobar-holoprosencephaly-two-rare-findings-in-fanconi-anemia
#5
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I Van Allen, Millan S Patel
Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate...
December 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29278628/perinatal-complications-in-two-cohort-groups-of-preterm-newborns-in-intensive-care-unit-for-children-s-diseases-of-university-clinical-hospital-mostar
#6
Vedran Bjelanović, Marjana Jerković Raguž, Matea Galić, Ana Čuljak, Ivana Bjelanović, Vajdana Tomić
AIM: To determine the frequency and type of complications in two cohort groups of preterm newborns. SUBJECTS AND METHODS: The research involved 100 preterm newborns divided into two groups according to their gestational age: newborns from 24 to 33+6/7 weeks GA and newborns from 34 to 36+6/7 weeks GA. Parameters which were observed with mother were: age, number of births, course and complications in pregnancy. Parameters with infant: gestational age, weight, newborn small for gestational age (IUGR), asphyxia, respiratory distress syndrome, sepsis, hyperbilirubinemia, apnea, anemia, intracranial hemorrhage and metabolic disorder (hypoglycaemia, hypocalcaemia)...
December 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/29250791/successful-management-of-severe-red-blood-cell-alloimmunization-in-pregnancy-with-a-combination-of-therapeutic-plasma-exchange-intravenous-immune-globulin-and-intrauterine-transfusion
#7
Laura C Nwogu, Kenneth J Moise, Kimberly L Klein, Hlaing Tint, Brian Castillo, Yu Bai
BACKGROUND: Antibodies to Rhesus and Kell antigens have been associated with severe hemolytic disease of the fetus and newborn (HDFN) necessitating intrauterine transfusion (IUT) of red blood cells (RBCs). We report a case series of five women with severe HDFN secondary to maternal RBC alloimmunization who were successfully managed with therapeutic plasma exchange (TPE), intravenous immune globulin (IVIG), and IUT. STUDY DESIGN AND METHODS: This is a retrospective case series of five women with severe HDFN who underwent a total of three TPE procedures during Weeks 10 to 13 of pregnancy, followed by weekly IVIG infusions...
December 17, 2017: Transfusion
https://www.readbyqxmd.com/read/29227711/diffuse-chorangiomatosis-as-a-cause-of-cardiomegaly-microangiopathic-hemolytic-anemia-and-thrombocytopenia-in-a-newborn
#8
Shreyas Arya, Vidit Bhargava, Joan Richardson, Hal K Hawkins
INTRODUCTION: The hallmark of diffuse chorangiomatosis is capillary dysvasculogenesis, diffusely involving the placenta. It can cause massive placental enlargement and may have adverse fetal effects. CASE REPORT: A 32 weeks gestation male infant was born via cesarean section and had a placenta weighing 900 g. There was diffuse vascular proliferation involving the stem villi and intermediate villi. Short Nucleotide Polymorphism (SNP) microarray analysis of the placenta showed no biparental mosaicism or loss of heterozygosity, ruling out placental mesenchymal dysplasia...
December 11, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29223451/mineralization-in-newborn-calves-contributes-to-health-improve-the-antioxidant-system-and-reduces-bacterial-infections
#9
Patrícia Glombowsky, Aleksandro S da Silva, Natan M Soldá, Gabriela M Galli, Angelisa H Biazus, Gabriela Campigotto, Nathieli B Bottari, Rejane S Sousa, Maiara C Brisola, Lenita M Stefani, Matheus D Baldissera, Marta L R Leal, Vera M Morsch, Maria Rosa C Schetinger, Gustavo Machado
The first phase of life of dairy calves has elevated mortality indices linked with low immunity and sanitary challenges, mainly bacterial infections are involved in the pathogenesis of diarrhea, the leading cause of death. Also, other important problem is the nutritional deficiencies, such as the mineral deficiency. Thus, the aim of this study was to evaluate whether an intramuscular mineral supplementation based on selenium, copper, potassium, magnesium and phosphorus possess beneficial effects on health of dairy calves...
December 6, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/29207894/maternal-and-neonatal-outcomes-related-to-iron-supplementation-or-iron-status-a-summary-of-meta-analyses
#10
Sehar Iqbal, Cem Ekmekcioglu
BACKGROUND: Iron deficiency is the most abundant nutritional deficiency in the world and is discussed to be associated with adverse pregnancy outcomes. The objective of this review was to perform an umbrella summary of meta-analyses to evaluate the effects and associations of iron supplementation or iron status on maternal and birth/neonatal outcomes. METHODS: A literature search was conducted on PubMed and Scopus by two reviewers without temporal restriction. Systematic reviews and meta-analyses of studies evaluating (1) the effects of multimicronutrient compared to iron + folic acid supplementations on maternal and birth/neonatal outcomes (2), the association of dietary iron intake or hemoglobin or ferritin status regarding the risk for maternal (gestational diabetes mellitus (GDM)) and birth/neonatal outcomes, and (3) the effects of iron supplementation on pregnancy and birth/neonatal outcomes, were included in this review...
December 5, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29202133/the-accuracy-of-hospital-icd-9-cm-codes-for-determining-sickle-cell-disease-genotype
#11
Angela B Snyder, Peter A Lane, Mei Zhou, Susan T Paulukonis, Mary M Hulihan
Sickle cell disease affects more than 100,000 individuals in the United States, among whom disease severity varies considerably. One factor that influences disease severity is the sickle cell disease genotype. For this reason, clinical prevention and treatment guidelines tend to differentiate between genotypes. However, previous research suggests caution when using a claimsbased determination of sickle cell disease genotype in healthcare quality studies. The objective of this study was to describe the extent of miscoding for the major sickle cell disease genotypes in hospital discharge data...
2017: Journal of Rare Diseases Research & Treatment
https://www.readbyqxmd.com/read/29194292/fetal-splenomegaly-a-review
#12
Marta Moreira, Rafael Brás, Daniela Gonçalves, Inês Alencoão, Gonçalo Inocêncio, Maria Rodrigues, Jorge Braga
Enlargement of the fetal spleen is usually found secondary to systemic diseases and is frequently associated with hepatomegaly. By far, the most common causes of fetal splenomegaly are infectious. Other etiologies responsible for this sign are hemolytic anemia, congestive cardiac failure, metabolic disorders, and rarely, leukemia, lymphoma, and histiocytosis.We report a case of prenatal splenomegaly diagnosed at 35 weeks, confirmed in the postnatal period. The postnatal workup showed the newborn had a familial type 3 form of hemophagocytic lymphohistiocytosis (HLH)...
November 29, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29193118/in-premature-infants-there-is-no-decrease-in-24-hour-posttransfusion-allogeneic-red-blood-cell-recovery-after-42-days-of-storage
#13
Demet Nalbant, José A Cancelas, Donald M Mock, Svetlana V Kyosseva, Robert L Schmidt, Gretchen A Cress, M Bridget Zimmerman, Ronald G Strauss, John A Widness
BACKGROUND: Critically ill preterm very-low-birthweight (VLBW) neonates (birthweight ≤ 1.5 kg) frequently develop anemia that is treated with red blood cell (RBC) transfusions. Although RBCs transfused to adults demonstrate progressive decreases in posttransfusion 24-hour RBC recovery (PTR24 ) during storage-to a mean of approximately 85% of the Food and Drug Administration-allowed 42-day storage-limited data in infants indicate no decrease in PTR24 with storage. STUDY DESIGN AND METHODS: We hypothesized that PTR24 of allogeneic RBCs transfused to anemic VLBW newborns: 1) will be greater than PTR24 of autologous RBCs transfused into healthy adults and 2) will not decrease with increasing storage duration...
November 29, 2017: Transfusion
https://www.readbyqxmd.com/read/29193111/clinical-input-of-anti-d-quantitation-by-continuous-flow-analysis-on-autoanalyzer-in-the-management-of-high-titer-anti-d-maternal-alloimmunization
#14
Cécile Toly-Ndour, Haifa Mourtada, Stéphanie Huguet-Jacquot, Emeline Maisonneuve, Stéphanie Friszer, Françoise Pernot, Pauline Thomas, Jean-Marie Jouannic, Bruno Carbonne, Anne Cortey, Agnès Mailloux
BACKGROUND: In addition to titration by indirect antiglobulin test most widely used, anti-D quantitation by continuous-flow analysis (CFA) may be performed to assess severity of maternal immunization. Only five studies have reported its added value in the management of pregnancies complicated by anti-D immunization. STUDY DESIGN AND METHODS: A retrospective study of 74 severe anti-D-immunized pregnancies was conducted from January 1, 2013, to December 31, 2014, in the Trousseau Hospital in Paris (France)...
November 29, 2017: Transfusion
https://www.readbyqxmd.com/read/29187036/persistence-of-villous-immaturity-in-term-deliveries-following-intrauterine-transfusion-for-parvovirus-b19-infection-and-rhd-associated-hemolytic-disease-of-the-fetus-and-newborn
#15
Whitney A McCarthy, Edwina J Popek
Common causes of fetal anemia and hydrops include parvovirus B19 infection during the first 2 trimesters of pregnancy, as well as maternal alloimmunization to RhD with subsequent hemolytic disease of the fetus and newborn (HDFN) in an RhD positive fetus. Although both of these conditions have historically caused significant fetal morbidity and mortality, the advent of intrauterine transfusion (IUT) over the last few decades have dramatically improved outcomes. Prior literature has extensively documented placental changes associated with untreated parvovirus infection and RhD HDFN in intrauterine fetal demises and preterm births; however, histopathologic changes in term placentas from term infants treated with IUT have not been reported...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29168218/the-clinical-epidemiology-of-sickle-cell-anemia-in-africa
#16
Alex W Macharia, George Mochamah, Sophie Uyoga, Carolyne M Ndila, Gideon Nyutu, Johnstone Makale, Metrine Tendwa, Emily Nyatichi, John Ojal, Mohammed Shebe, Kennedy O Awuondo, Neema Mturi, Norbert Peshu, Benjamin Tsofa, J Anthony G Scott, Kathryn Maitland, Thomas N Williams
Sickle cell anemia (SCA) is the commonest severe monogenic disorders of humans. The disease has been highly characterized in high-income countries but not in sub-Saharan Africa where SCA is most prevalent. We conducted a retrospective cohort study of all children 0-13 years admitted from within a defined study area to Kilifi County Hospital in Kenya over a five-year period. Children were genotyped for SCA retrospectively and incidence rates calculated with reference to population data. Overall, 576 of 18,873 (3...
November 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29141590/health-nutrition-and-development-of-children-born-preterm-and-low-birth-weight-in-rural-rwanda-a-cross-sectional-study
#17
Catherine M Kirk, Jean Claude Uwamungu, Kim Wilson, Bethany L Hedt-Gauthier, Neo Tapela, Peter Niyigena, Christian Rusangwa, Merab Nyishime, Evrard Nahimana, Fulgence Nkikabahizi, Christine Mutaganzwa, Eric Ngabireyimana, Francis Mutabazi, Hema Magge
BACKGROUND: As care for preterm and low birth weight (LBW) infants improves in resource-limited settings, more infants are surviving the neonatal period. Preterm and (LBW) infants are at high-risk of nutritional and medical comorbidities, yet little is known about their developmental outcomes in low-income countries. This study evaluated the health, nutritional, and developmental status of preterm/LBW children at ages 1-3 years in Rwanda. METHODS: Cross-sectional study of preterm/LBW infants discharged between October 2011 and October 2013 from a hospital neonatal unit in rural Rwanda...
November 15, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29062250/hyperbilirubinemia-due-to-minor-blood-group-anti-e-incompatibility-in-a-newborn-a-case-report
#18
Murat Özcan, Selin Sevinç, Vildan Boz Erkan, Yüksel Yurdugül, S Ümit Sarıcı
In addition to Rh and ABO incompatibilities subgroup incompatibilities may rarely play a role among the causes of hemolytic anemia and indirect hyperbilirubinemia in newborns. The most common minor blood group antigens that cause blood incompatibility between the mother and baby are C, c, E, e, Kell, Duffy, Diego, Kidd and MNSs antigens. In this article, a newborn in whom hyperbilirubinemia due to anti-E minor blood group incompatibility developed and was treated with phototherapy succesfully is presented and minor blood group incompatibilities due to anti-E are reviewed...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29058125/imported-malaria-in-pregnant-women-report-from-a-french-university-centre
#19
M Develoux, G Le Loup, B Lafon-Desmurs, D Magne, G Belkadi, E Daray, G Pialoux, C Hennequin
OBJECTIVE: To describe malaria during pregnancy outside endemic areas. MATERIALS AND METHODS: We retrospectively reviewed all cases of imported malaria during pregnancy, diagnosed over a 11-year period in a French hospital. RESULTS AND CONCLUSION: We recovered 18 cases, all from sub-Saharan countries. The infection could appear distantly from arrival in France (up to 36 months), was asymptomatic in 3 cases, with anemia being the most common marker of infection (n = 14)...
October 20, 2017: Infection
https://www.readbyqxmd.com/read/28966022/pediatric-hospitalizations-for-upper-urinary-tract-calculi-epidemiological-and-treatment-trends-in-the-united-states-2001-2014
#20
Parth K Modi, Young Suk Kwon, Rachel B Davis, Sammy E Elsamra, Viktor Dombrovskiy, Ephrem O Olweny
INTRODUCTION: The incidence of urolithiasis in the pediatric population in the United States has steadily been increasing over the past few decades. Few studies to date have examined trends in the hospitalization and inpatient surgical treatment of urolithiasis in the pediatric population using nationally representative data. OBJECTIVE: The aim was to evaluate nationwide trends in the rates of pediatric hospitalization and inpatient surgical activity for upper urinary tract calculi (UUTC) in the United States from 2001 to 2014...
September 7, 2017: Journal of Pediatric Urology
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