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https://www.readbyqxmd.com/read/29325287/-the-diagnostic-value-and-limits-of-diagnostic-parameters-for-wilson-s-disease
#1
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/29318945/relationship-between-obesity-and-iron-deficiency-anemia-is-there-a-role-of-hepcidin
#2
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/29311011/-screening-for-nephropathy-in-major-sickle-cell-syndromes-in-patients-monitored-at-the-national-reference-center-for-sickle-cell-disease-in-niamey-niger
#3
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/29303133/relationship-between-zinc-levels-and-anthropometric-indices-among-school-aged-female-children-with-sickle-cell-anemia-in-enugu-nigeria
#4
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/29302503/celiac-disease-in-south-jordan
#5
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/29296782/whole-exome-sequencing-for-rh-genotyping-and-alloimmunization-risk-in-children-with-sickle-cell-anemia
#6
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
#7
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
https://www.readbyqxmd.com/read/29260649/are-infants-less-than-6-months-of-age-a-neglected-group-for-anemia-prevention-in-low-income-countries
#8
Cinta Moraleda, Regina N Rabinovich, Pedro L Alonso, Clara Menéndez
Anemia is a major public health problem that affects mainly children, predominantly in low-income countries and most often due to iron deficiency (ID). Administration of iron supplements to prevent and treat ID anemia in malaria endemic areas has been controversial for decades; however, recent World Health Organization guidelines recommend universal iron supplementation for children in highly prevalent anemia settings, including those where malaria is endemic. However, infants younger than 6 months of age have been exempted from this recommendation because ID is not considered prevalent at this age and because of assumptions-without evidence-that they are protected from ID through breast milk...
December 18, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29242758/comprehensive-review-of-preschool-age-anemia-in-the-pacific-island-jurisdictions
#9
Tiffany F Lin, James N Huang, Haley L Cash
Anemia can be an indicator of poor nutrition and health, and it can have significant consequences. Children are disproportionately affected by anemia. This comprehensive review summarizes the available literature on anemia prevalence in young children in the islands of the Oceania region. The anemia prevalence, the criteria used for diagnosis, the date the data was reported, and the types of samples collected were reviewed. Anemia prevalence estimates were reported for eighteen of the Pacific Island Jurisdictions...
December 2017: Hawai'i Journal of Medicine & Public Health: a Journal of Asia Pacific Medicine & Public Health
https://www.readbyqxmd.com/read/29226507/age-is-the-only-predictor-of-small-decrease-in-lung-function-in-children-with-sickle-cell-anemia
#10
Shaina M Willen, Robyn Cohen, Mark Rodeghier, Fenella Kirkham, Susan S Redline, Carol Rosen, Jane Kirkby, Michael R DeBaun
The longitudinal pattern of lung function in children with sickle cell anemia (SCA) has shown a decrease in FEV1 % predicted, a risk factor for death in adults with SCA, but predictors for this decline are poorly characterized. In a prospective longitudinal multi-center cohort of children with SCA, we tested the hypotheses that: 1) FEV1 % predicted declines over time; and 2) SCA-specific characteristics and therapy predict this decline. At three clinical centers, children with SCA (HbSS or HbSβ0 thalassemia), unselected for respiratory disease, were enrolled in the Sleep and Asthma Cohort (SAC) study...
December 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29221528/evaluation-of-iron-deficiency-anemia-in-a-pediatric-clinic-in-the-dominican-republic
#11
Steven G McKee, Ryan Close, Elizabeth Lowenthal
BACKGROUND: Iron deficiency and iron deficiency anemia affect billions of people worldwide. Infants and young children are the most vulnerable. The Niños Primeros en Salud pediatric clinic aims to follow the American Academy of Pediatrics (AAP) recommendation to screen all children at 12 months of age, a vital period for development and the time of greatest risk. OBJECTIVES: To evaluate the clinic's performance screening for, diagnosing, and treating iron deficiency anemia; and to describe the prevalence and severity of anemia in infants and children attending a perirural clinic in the Dominican Republic...
May 2017: Annals of Global Health
https://www.readbyqxmd.com/read/29206727/assessment-of-myocardial-function-and-injury-by-echocardiography-and-cardiac-biomarkers-in-african-children-with-severe-plasmodium-falciparum-malaria
#12
Simon Kotlyar, Peter Olupot-Olupot, Julius Nteziyaremye, Samuel O Akech, Sophie Uyoga, Rita Muhindo, Christopher L Moore, Kathryn Maitland
OBJECTIVES: Perturbed hemodynamic function complicates severe malaria. The Fluid Expansion as Supportive Therapy trial demonstrated that fluid resuscitation, involving children with severe malaria, was associated with increased mortality, primarily due to cardiovascular collapse, suggesting that myocardial dysfunction may have a role. The aim of this study was to characterize cardiac function in children with severe malaria. DESIGN: A prospective observational study with clinical, laboratory, and echocardiographic data collected at presentation (T0) and 24 hours (T1) in children with severe malaria...
December 4, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29204197/infantile-tremor-syndrome-in-modern-times
#13
Piyush Gautam, Nivedita Sharma, Sanjeev Chaudhary, Ankush Kaushal
Background: Infantile tremor syndrome (ITS) is a clinical syndrome of acute or gradual onset of mental and psychomotor changes, pigmentary disturbances of hair and skin, pallor, and tremors in malnourished children aged between 5 months and 3 years. It is a well-known entity, but the exact etiopathogenesis is still not known. Setting and Design: Prospective observational study carried out in the Department of Pediatrics at Dr RPGMC Tanda, Kangra in Himachal Pradesh...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29168218/the-clinical-epidemiology-of-sickle-cell-anemia-in-africa
#14
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/29167083/the-effect-of-diagnostic-blood-loss-on-anemia-and-transfusion-among-postoperative-patients-with-congenital-heart-disease-in-a-pediatric-intensive-care-unit
#15
Dan Zhou, Yu-Lan Luo, Shu-Hua Luo, Mei Feng, Meng-Lin Tang
PURPOSE: To evaluate whether diagnostic blood loss can lead to anemia and consequent blood transfusion among postoperative patients with congenital heart disease (CHD) in the pediatric intensive care unit (PICU). DESIGN AND METHODS: This prospective observational study was conducted in a university-affiliated tertiary hospital between January and August 2016. CHD patients aged <12years, undergoing cardiac surgery, with a PICU stay >48h were included (n=205)...
November 4, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29152308/emergency-blood-transfusion-practices-among-anaemic-children-presenting-to-an-urban-emergency-department-of-a-tertiary-hospital-in-tanzania
#16
Catherine R Shari, Hendry R Sawe, Brittany L Murray, Victor G Mwafongo, Juma A Mfinanga, Michael S Runyon
Background: Severe anaemia contributes significantly to mortality, especially in children under 5 years of age. Timely blood transfusion is known to improve outcomes. We investigated the magnitude of anaemia and emergency blood transfusion practices amongst children under 5 years presenting to the Emergency Department (ED) of Muhimbili National Hospital (MNH) in Tanzania. Methods: This prospective observational study enrolled children under 5 years old with anaemia, over a 7-week period in August and September of 2015...
2017: BMC Hematology
https://www.readbyqxmd.com/read/29150103/body-composition-of-fanconi-anemia-patients-after-hematopoietic-stem-cell-transplantation
#17
Priscilla Peixoto Policarpo da Silva, Daniella Schmit, Carmem Bonfim, Denise Johnsson Campos, Estela Iraci Rabito, Regina Maria Vilela
INTRODUCTION: Fanconi anemia is a rare genetic disease linked to bone marrow failure; a possible treatment is hematopoietic stem cell transplantation. Changes in the nutritional status of Fanconi anemia patients are not very well known. This study aimed to characterize body composition of adult, children and adolescent patients with Fanconi anemia who were submitted to hematopoietic stem cell transplantation or not. METHODS: This cross-sectional study enrolled 63 patients (29 adults and 34 children and adolescents)...
October 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/29146883/a-landscape-of-germline-mutations-in-a-cohort-of-inherited-bone-marrow-failure-patients
#18
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Naddia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier
Bone marrow failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All patients had cytopenias, and 12.0% presented ≥5% bone marrow blast cells. Median age at genetic evaluation was 11 years; 20.7% of patients were aged ≤2 years and 36.9% were ≥18 years. We analyzed genomic DNA from skin fibroblasts using whole-exome sequencing, and were able to assign a causal or likely causal germline mutation in 86 patients (48...
November 16, 2017: Blood
https://www.readbyqxmd.com/read/29145822/ultrasonographic-parameters-of-the-liver-spleen-and-kidneys-among-a-cohort-of-school-children-in-sri-lanka
#19
Dianne Tania Dayanthi Warnakulasuriya, Pattiya Pathirennahalage Uddika Chamila Peries, Yaddehi Arachchillage Chaminda Rathnasekara, KaluArachchige Thushari Madurika Jayawardena, Angappulige Upasena, Anada Rajitha Wickremasinghe
BACKGROUND: Liver, spleen and kidney dimensions on ultrasonography vary with the age, weight and ethnicity. Reference standards of these parameters for normal Sri Lankan children are not available. Our aim was to establish normative data for longitudinal length of liver, spleen and kidneys in healthy children. METHOD: Three hundred fifty-seven children, 5-13 years of age were selected from two randomly selected schools in the Gampaha district in the western province of Sri Lanka...
November 16, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29143641/effects-of-deworming-on-child-and-maternal-health-a-literature-review-and-meta-analysis
#20
Winter Maxwell Thayer, Adrienne Clermont, Neff Walker
BACKGROUND: Soil-transmitted helminth infections are widespread. Many studies have been published on the topic of deworming. The Lives Saved Tool (LiST) is a software package that uses a deterministic mathematical model to estimate the effect of scaling up interventions on maternal and child health outcomes. This review investigates the scope of available evidence for benefits of deworming treatments in order to inform a decision about possible inclusion of deworming as an intervention in LiST...
November 7, 2017: BMC Public Health
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