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https://www.readbyqxmd.com/read/29330115/pediatric-onset-evans-syndrome-heterogeneous-presentation-and-high-frequency-of-monogenic-disorders-including-lrba-and-ctla4-mutations
#1
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel, Isabelle Pellier, Felipe Suarez, Isabelle Thuret, Geneviève de Saint-Basile, Capucine Picard, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat, Pierre Quartier
Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS...
January 9, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29329166/hematologic-manifestations-of-brucellosis-in-children
#2
Naphtali Justman, Yariv Fruchtman, David Greenberg, Ben-Shimol Shalom
BACKGROUND: Brucellosis is a common zoonosis in the Bedouin population of southern Israel. Limited data exist for the rate and risk factors of hematologic complication of brucellosis in children. We assessed anemia, leukopenia, thrombocytopenia and pancytopenia in childhood brucellosis in southern Israel. METHODS: Our medical center is the sole hospital in southern-Israel. All medical files of brucellosis, 2005-2014, identified through positive blood cultures or International Classification of Diseases 9 revision (ICD9) coding with positive serology, were reviewed retrospectively...
January 11, 2018: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#3
X Yang
Wilson disease (WD) is a rare and treatable genetic disorder. This paper describes the new advances and author's long-term experiences in the diagnosis of WD. The characteristics in clinical and routine tests are: the age of presentation can be quite broad, the WD could not be excluded based on age only; the patients usually have mild digestive symptoms but obvious chronic liver disease signs; liver function tests may reveal normal or a mild elevation in bilirubin, ALT and AST, but quite abnormal in serum albumin and prothrombin time in most patients; Coombs-negative hemolytic anemia, normal or markedly subnormal serum alkaline phosphatase (typically < 40 IU/L) are useful for the diagnosis of fulminant WD...
December 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/29322365/iron-pots-for-the-prevention-and-treatment-of-anemia-in-preschoolers
#4
Francisco Plácido Nogueira Arcanjo, Débora Rodrigues Ribeiro Macêdo, Paulo Roberto Santos, Caio Plácido Costa Arcanjo
OBJECTIVE: To assess the effect of food cooked in iron pots for the prevention and treatment of iron deficiency anemia. METHODS: In this cluster randomized clinical trial, authors evaluated preschoolers aged 4-5 y for 16 wk. Children were cluster randomized to either eating from iron pots (Group A) or aluminum pots (Group B). Primary outcome variables were change in hemoglobin concentration and anemia prevalence. Two biochemical evaluations were performed, to determine Hb concentrations, before and after intervention...
January 11, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29318945/relationship-between-obesity-and-iron-deficiency-anemia-is-there-a-role-of-hepcidin
#5
Ertan Sal, Idil Yenicesu, Nurullah Celik, Hatice Pasaoglu, Bulent Celik, Ozge Tugce Pasaoglu, Zühre Kaya, Ulker Kocak, Orhun Camurdan, Aysun Bideci, Peyami Cinaz
OBJECTIVES: Iron deficiency is common in obese children although the underlying mechanism is unclear. The aim of this study was to investigate the associations between iron parameters, leptin, hepcidin and adiponectin levels in obese children. METHODS: A total of 237 children, ranging in age from 5 to 18 years, 180 with primary obesity and 57 healthy children and adolescents, were enrolled. Complete blood count, serum iron levels, iron-binding capacity, ferritin levels, leptin, hepcidin and adiponectin levels were studied...
January 10, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29318647/realizing-effectiveness-across-continents-with-hydroxyurea-enrollment-and-baseline-characteristics-of-the-multicenter-reach-study-in-sub-saharan-africa
#6
Patrick T McGann, Thomas N Williams, Peter Olupot-Olupot, George A Tomlinson, Adam Lane, José Luís Reis da Fonseca, Robert Kitenge, George Mochamah, Ham Wabwire, Susan Stuber, Thad A Howard, Kathryn McElhinney, Banu Aygun, Teresa Latham, Brígida Santos, Léon Tshilolo, Russell E Ware
Despite its well-described safety and efficacy in the treatment of sickle cell anemia (SCA) in high-income settings, hydroxyurea remains largely unavailable in sub-Saharan Africa, where more than 75% of annual SCA births occur and many comorbidities exist. Realizing Effectiveness Across Continents with Hydroxyurea (REACH, ClinicalTrials.gov NCT01966731) is a prospective, Phase I/II open-label trial of hydroxyurea designed to evaluate the feasibility, safety, and benefits of hydroxyurea treatment for children with SCA in four sub-Saharan African countries...
January 10, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29311011/-screening-for-nephropathy-in-major-sickle-cell-syndromes-in-patients-monitored-at-the-national-reference-center-for-sickle-cell-disease-in-niamey-niger
#7
Moumouni Garba, Zeinabou Maiga Moussa Tondi, Hassan Diongoule, Samaila Aboubacar, Abdou Ide, Nadège Ruddy Biyao-Nelson, Illiassou Soumaila, Soumana Alido
BACKGROUND: Sickle cell anemia is the most common hereditary hemopathy in the world. It is a disease that attacks all the systems of the organism. The kidneys are among the most sensitive organs of this disease. The main objective of this study is to detect sickle cell nephropathy in patients followed at the National Reference Center for Sickle Cell Disease in Niamey. METHODS: It is a prospective study carried out over a period of one year (January to December 2016)...
January 5, 2018: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29306723/current-prevalence-of-intestinal-parasitic-infections-and-their-impact-on-hematological-and-nutritional-status-among-karen-hill-tribe-children-in-omkoi-district-chiang-mai-province-thailand
#8
Jintana Yanola, Woottichai Nachaiwieng, Suwit Duangmano, Mujalin Prasannarong, Pradya Somboon, Sakorn Pornprasert
Intestinal parasitic infection represents a substantial problem for children living in rural or limited resources areas and significantly relates to anemia and nutritional status. This study aimed to determine the current prevalence of intestinal parasitic infections among school-age children of Karen hill tribe population in Omkoi District, Chiang Mai Province, Thailand and assess the impact of intestinal parasitic infection on hematological and nutritional status in those children. A total of 375 Karen hill tribe children, 6-14 years of age, in Omkoi District were randomly selected to participate in this study...
January 5, 2018: Acta Tropica
https://www.readbyqxmd.com/read/29305416/involvement-of-hepcidin-in-iron-metabolism-dysregulation-in-gaucher-disease
#9
Thibaud Lefebvre, Niloofar Reihani, Raed Daher, Thierry Billette de Villemeur, Nadia Belmatoug, Christian Rose, Yves Colin-Aronovicz, Hervé Puy, Caroline Le Van Kim, Mélanie Franco, Zoubida Karim
Gaucher disease is an inherited deficiency of glucocerebrosidase leading to accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow. The resulting lipid-laden macrophages lead to the appearance of Gaucher cells. Anemia associated with an unexplained hyperferritinemia is a frequent finding in Gaucher disease, but whether this pathogenesis is related to an iron metabolism disorder has remained unclear. To investigate this issue, we explored the iron status of a large cohort of 90 type I Gaucher disease patients, including 66 patients treated with enzyme replacement therapy...
January 5, 2018: Haematologica
https://www.readbyqxmd.com/read/29303133/relationship-between-zinc-levels-and-anthropometric-indices-among-school-aged-female-children-with-sickle-cell-anemia-in-enugu-nigeria
#10
V O Onukwuli, A N Ikefuna, A R Nwokocha, I J Emodi, C B Eke
BACKGROUND: Sickle cell anaemia is one of the most common inherited disorders globally. Some affected children have retardation of physical growth which is also seen in those with zinc deficiency. OBJECTIVE: To assess the relationship between zinc levels and anthropometric indices of SCA children. METHODS: A cross- sectional, case-control study on young females aged 6-18 years at the UNTH, Enugu. Relevant clinical data as well as 24 hour dietary recall were collected...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29303127/assessment-of-biochemical-liver-function-tests-in-relation-to-age-among-steady-state-sickle-cell-anemia-patients
#11
S A Akuyam, A Abubakar, N Lawal, R Yusuf, S M Aminu, A Hassan, A Musa, A K Bello, I A Yahaya, P A Okafor
BACKGROUND AND OBJECTIVE: Multiorgan failure including liver dysfunction is a common finding in sickle cell anemia (SCA) patients, the cause of which is multifactorial with advancing age said to be a major determinant. There is a paucity of data on liver function among SCA patients in relation to age in northern Nigerian hospitals, including Ahmadu Bello University Teaching Hospital (ABUTH), Zaria. This study was to assess the biochemical liver function tests (LFTs) as they relate to age among SCA patients in steady state, with a view to improving the overall monitoring of these patients...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29302643/burden-and-determinant-factors-of-anemia-among-elementary-school-children-in-northwest-ethiopia-a-comparative-cross-sectional-study
#12
Berhanu Elfu Feleke, Awoke Derbie, Yohannes Zenebe, Daniel Mekonnen, Tadesse Hailu, Begna Tulu, Yesuf Adem, Fetlework Bereded, Fantahun Biadglegne
Background: Anemia is an indicator of both poor nutrition and health. In low-income countries like Ethiopia, the prevalence of anemia remains high due to several determinant factors. There is a lack of regular surveillance system to determine the magnitude of anemia among school age children. The aim of this study was to determine the burden and determinant factors of anemia among school children. Materials and Methods: A comparative cross-sectional study was conducted from March 2014 to May 2014 among elementary school children in Northwest Ethiopia...
2018: African Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29302503/celiac-disease-in-south-jordan
#13
Eyad Altamimi
Purpose: Celiac disease, an autoimmune enteropathy triggered by exposure to gluten, is not uncommon in South Jordan. However, its prevalence is underestimated due to lack of physician awareness of the diversity of disease presentation. The clinical spectrum includes classic gastrointestinal manifestations, as well as rickets, iron-deficiency anemia, short stature, elevated liver enzymes, and edema. Our goal was to evaluate celiac disease presentation in clinically diagnosed children. Methods: Retrospective study included all children diagnosed with celiac disease between September 2009 and September 2015...
December 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/29300737/an-evaluation-of-hemoglobin-measurement-tools-and-their-accuracy-and-reliability-when-screening-for-child-anemia-in-rwanda-a-randomized-study
#14
Megan Parker, Zhen Han, Elizabeth Abu-Haydar, Eric Matsiko, Damien Iyakaremye, Lisine Tuyisenge, Amalia Magaret, Alexandre Lyambabaje
Blood hemoglobin (Hb) is a common indicator for diagnosing anemia and is often determined through laboratory analysis of venous samples. One alternative to laboratory-based methods is the handheld HemoCue® Hb 201+ device, which requires a finger prick and wicking of blood into a pretreated cuvette for analysis. An alternative HemoCue® gravity method is being investigated for improved accuracy. Further, recent developments in noninvasive technologies could provide an accurate, rapid, safe, point-of-care option for hemoglobin estimation while addressing some limitations of current tools, but device performance must be assessed in low-resource settings...
2018: PloS One
https://www.readbyqxmd.com/read/29299089/hamartoma-of-the-spleen-splenoma-with-calcifications-in-a-child-with-beta-thalassemia-a-case-report
#15
Dario Giambelluca, Dario Picone, Giuseppe Lo Re, Salvatore Pappalardo, Placido Romeo
Splenic hamartoma (or splenoma) is a rare, benign, vascular tumor, often incidentally found at imaging, surgery or autopsy. Albeit usually asymptomatic and rare in children, when it occurs in the pediatric population it is more commonly symptomatic. We report a case of a 15-year-old girl with iron-deficiency anemia and beta-thalassemia, who had a large (10 × 8 × 7 cm) splenic lesion with calcifications, incidentally found during follow-up for splenomegaly and histologically characterized as hamartoma with calcified areas...
May 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29297952/first-line-choice-for-severe-aplastic-anemia-in-children-transplantation-from-a-haploidentical-donor-vs-immunosuppressive-therapy
#16
Yifei Cheng, Zhengli Xu, Yuanyuan Zhang, Jun Wu, Fengrong Wang, Xiaodong Mo, Yuhong Chen, Wei Han, Jinsong Jia, Yu Wang, Xiaohui Zhang, Xiaojun Huang, Leping Zhang, Lanping Xu
We retrospectively compared the outcomes of children with severe aplastic anemia (SAA) who received immunosuppressive therapy (IST) or who underwent hematopoietic stem cell transplantation (HSCT) from a haploidentical donor (HID), between 2007 and 2016. A total of 52 children with SAA under the age of 17 years were initially treated with IST (n = 24) or haploidentical HSCT (n = 28) as first-line treatment. The estimated 10-year overall survival was 73.4 ± 12.6% and 89.3 ± 5.8% in patients treated with IST or HID-HSCT (P = ...
December 18, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/29296908/the-case-for-hla-identical-sibling-hematopoietic-stem-cell-transplantation-in-children-with-symptomatic-sickle-cell-anemia
#17
Courtney D Fitzhugh, Mark C Walters
This article has a companion Counterpoint by DeBaun and Clayton.
December 12, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296825/disease-severity-and-slower-psychomotor-speed-in-adults-with-sickle-cell-disease
#18
Dana R Jorgensen, Andrea Metti, Meryl A Butters, Joseph M Mettenburg, Caterina Rosano, Enrico M Novelli
Psychomotor slowing is common in children with sickle cell disease (SCD), but little is known about its severity in adults. We conducted a cross-sectional study to quantify psychomotor speed, measured with the digit symbol substitution test (DSST), in relationship with disease severity in adults with SCD attending an outpatient clinic (n = 88, age 36.3 years). Genotype was used to group patients in "severe" (homozygous for hemoglobin S or compound heterozygous with β0 thalassemia) or "moderate" groups (compound heterozygous for HbS, with either HbC or β+ thalassemia)...
September 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29296782/whole-exome-sequencing-for-rh-genotyping-and-alloimmunization-risk-in-children-with-sickle-cell-anemia
#19
Stella T Chou, Jonathan M Flanagan, Sunitha Vege, Naomi L C Luban, R Clark Brown, Russell E Ware, Connie M Westhoff
RH genes are highly polymorphic and encode the most complex of the 35 human blood group systems. This genetic diversity contributes to Rh alloimmunization in patients with sickle cell anemia (SCA) and is not avoided by serologic Rh-matched red cell transfusions. Standard serologic testing does not distinguish variant Rh antigens. Single nucleotide polymorphism (SNP)-based DNA arrays detect many RHD and RHCE variants, but the number of alleles tested is limited. We explored a next-generation sequencing (NGS) approach using whole-exome sequencing (WES) in 27 Rh alloimmunized and 27 matched non-alloimmunized patients with SCA who received chronic red cell transfusions and were enrolled in a multicenter study...
August 8, 2017: Blood Advances
https://www.readbyqxmd.com/read/29286515/cortisol-level-as-risk-factor-for-malignant-hematologic-pathology-in-children-exposed-to-ionizing-radiation-after-chornobyl-accident
#20
V G Bebeshko, K M Bruslova, T I Pushkareva, N M Tsvietkova, L O Lyashenko, A S Sergeeva, V F Kuzmenko, S M Iatsemyrskiy, Yu M Samson, V G Boyarsky, I V Tryhlіb
OBJECTIVE: Determination of serum cortisol level in the initial period of acute leukemia in children, who exposed to ion izing radiation and other factors of Chornobyl accident, depending on their age and prognosis of disease. MATERIALS AND METHODS: The study involved 283 children residents of Kyiv, Zhytomyr and Chernihiv regions. There were 90 acute leukemia patients(AL) (ALL - 56, AML - 34), and 193 people of comparison group with anemia, leukemoid reactions and lymphadenopathy...
December 2017: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
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