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Sickle cell anemia

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https://www.readbyqxmd.com/read/28211104/dat-positive-plasmodium-ovale-malaria-presenting-in-a-child-with-sickle-cell-anemia
#1
Nicholas S Whipple, Jason R Schwartz, Kerri A Nottage
No abstract text is available yet for this article.
February 17, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28210918/nutcracker-syndrome-and-sickle-cell-trait-a-perfect-storm-for-hematuria
#2
Amier Ahmad, Samuel K McElwee, Ryan R Kraemer
We describe the case of a 27-year-old woman with a history of sickle cell trait (SCT) who presented with several months of hematuria and was found to have nutcracker syndrome (NCS). While SCT is a common cause of hematuria resulting from renal papillary necrosis, our patient had concomitant abdominal pain and anemia, prompting further evaluation and the subsequent diagnosis of NCS. Interestingly, the anoxia in the left renal vein from NCS predisposes patients with SCT to sickling. Our case highlights key clinical features of both NCS and SCT and the relationship between the two disease processes...
February 16, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28209096/increased-oxidative-stress-alters-nucleosides-metabolite-levels-in-sickle-cell-anemia
#3
Lívia Gelain Castilhos, Juliana Sorraila de Oliveira, Stephen Adeniyi Adefegha, Luana Pereira Magni, Pedro Henrique Doleski, Fatima Husein Abdalla, Cínthia Melazzo de Andrade, Daniela Bitencourt Rosa Leal
OBJECTIVES: This study was conducted to assess the markers of oxidative stress, myeloperoxidase (MPO), acetylcholinesterase (AChE) and xanthine oxidase (XO) activities as well as the levels of nucleotide metabolites in sickle cell anemia (SCA) patients. METHODS: Fifteen SCA treated patients and 30 health subjects (control group) were selected. The markers of oxidative stress (levels of reactive oxygen species (ROS), plasma proteins, carbonyl content, lipid peroxidation (TBARS), total thiols (T-SH), glutathione and catalase activity), MPO, AChE and XO activities as well as the levels of nucleotide metabolites were measured in SCA patients...
February 16, 2017: Redox Report: Communications in Free Radical Research
https://www.readbyqxmd.com/read/28205320/trace-elements-in-children-suffering-from-sickle-cell-anemia-a%C3%A2-case-control-study
#4
Joseph K Sungu, Olivier Mukuku, Augustin Mulangu Mutombo, Paul Mawaw, Michel N Aloni, Oscar N Luboya
BACKGROUND: Information on serum albumin and trace elements among children suffering from Sickle Cell Anemia (SCA) was poorly documented in Africa. The aim of this study was to describe and to compare different values of trace elements with published reports from other parts of the world. METHODS: We carried out a case-control study. Seventy-six steady state children suffering from SCA (Hb-SS). One hundred and fifty-two children were recruited with 76 (cases, Hb-SS) and 76 (control, Hb-AA) to compare the data...
February 15, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28195097/phenotypic-expression-of-hbo-indonesia-in-two-indian-families-and-its-interaction-with-sickle-hemoglobin
#5
Amar Das Gupta, Anita Nadkarni, Pallavi Mehta, Manju Goriwale, Manisha Ramani, Pradnya Chaudhary, Vishal Mehrotra, Roshan Colah
BACKGROUND: Alpha globin chain variants are clinically significant since they directly influence the structure and function of the hemoglobin (Hb) molecules they constitute, either in combination with normal beta globin chains or with variant beta chains, thereby altering the morbidity and mortality associated with the resultant hemoglobinopathies. We describe here two unrelated families from Madhya Pradesh who had a nondeletional alpha-chain variant, HbO Indonesia (CD116 G → A). Members of one of the two families also had coinheritance of sickle hemoglobin (HbS)...
January 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28188925/impact-of-genetic-polymorphisms-in-key-enzymes-of-homocysteine-metabolism-on-the-pathophysiology-of-sickle-cell-anemia
#6
Danilo Grünig Humberto da Silva, Edis Belini Junior, Lidiane de Souza Torres, Jessika Viviani Okumura, Willian Marcel Barberino, Renan Garcia de Oliveira, Vanessa Urbinatti Teixeira, Clarisse Lopes de Castro Lobo, Eduardo Alves de Almeida, Claudia Regina Bonini-Domingos
This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; c. 677C>T) and cystathionine β-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia (SCA) patients and on routine markers, correlating them with hydroxycarbamide (HC) treatment. We evaluated 95 unrelated and diagnosed SCA patients. All patients received a prophylactic treatment with folic acid of 5mg/day, while 41 (43.2%) of them were under hydroxycarbamide (HC) treatment (average dose: 22mg/kg/day)...
February 7, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28185829/a-systematic-review-of-the-literature-for-severity-predictors-in-children-with-sickle-cell-anemia
#7
Emily Riehm Meier, Ross M Fasano, Paul R Levett
All patients with HbSS (SCA) share the same genetic mutation but the clinical phenotype is variable and difficult to predict early in life. A reliable severity predictor would be invaluable toward directing therapeutic decisions in those patients at highest risk of SCA complications. A search of PubMed, Cochrane Clinical Trials Register, and Scopus was performed to determine which SCA severity predictors have been validated in pediatric patients. The full text of 94 of the 590 references identified was reviewed based on the title/abstract...
February 2, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28154185/heterochromatin-protein-1%C3%AE-is-a-novel-epigenetic-repressor-of-human-embryonic-%C3%AF%C2%B5-globin-gene-expression
#8
Yadong Wang, Ying Wang, Lingling Ma, Min Nie, Junyi Ju, Ming Liu, Yexuan Deng, Bing Yao, Tao Gui, Xinyu Li, Chan Guo, Chi Ma, Renxiang Tan, Quan Zhao
Production of hemoglobin during development is tightly regulated. For example, expression from the human β-globin gene locus, comprising β-, δ-, ϵ-, and γ-globin genes, switches from ϵ-globin to γ-globin during embryonic development and then from γ-globin to β-globin after birth. Expression of human ϵ-globin in mice has been shown to ameliorate anemia caused by β-globin mutations, including those causing β-thalassemia and sickle cell disease (SCD), raising the prospect that reactivation of ϵ-globin expression could be used in managing these conditions in humans...
February 1, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28141731/growth-and-documentation-deficits-where-to-start-in-helping-families
#9
Wilhelmina Hernandez, Deborah A Frank, Samantha Morton, Carmen Palacios, Marilyn Augustyn
Pedro is a 2-year 7-month-old boy who was presented for the first time after a visit to a local emergency room (ER) for diarrhea. At the time of his birth, his undocumented mother, Clara, was 20 years old, uninsured, and with limited English proficiency living approximately 400 miles south of our practice in a different state. Although she had been brought to the United States as a child, she had never finished high school. Pedro was born what mother thought was full-term at his parent's home, where a lay midwife assisted during the delivery...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28139477/determination-of-toral-antioxidant-capacity-of-saliva-in-sickle-cell-anemic-patients-a-cross-sectional-study
#10
Sudhindra Baliga, Minal Chaudhary, Sham S Bhat, Poonam Bhatiya, Nilima Thosar, Pooja Bhansali
BACKGROUND: Sickle cell anemia is a congenital hemoglobinopathy characterized by deformed red blood cells. Oxidative stress plays an important role in the pathophysiology of sickle cell anaemia as it destroys free radicals, and thereby depleting the protective mechanisms such as antioxidants in serum. These antioxidants are essential to protect against harmful oxidation-reduction reactions preventing oxidative damage to the cells. AIM: To evaluate and compare the Total Antioxidant Capacity (TAC) of serum and saliva in sickle cell anemia patients...
January 2017: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/28133359/myonecrosis-in-sickle-cell-anemia-case-study
#11
Lalita Prabha Turaga, Prajwal Boddu, Steve Kipferl, Anupam Basu, Martin Yorath
BACKGROUND Myonecrosis is one of the more poorly studied, painful manifestations of sickle cell crisis. Medical literature is sparse detailing the manifestations and management of such symptoms. In myonecrosis, red cells containing sickle hemoglobin become rigid, resulting in reduced blood flow and myonecrosis. CASE REPORT We present a case study of a patient in sickle cell crisis with an episode of acute pain and swelling to the intrinsic muscles of the foot as a prominent feature of the crises. Although muscle biopsy is considered the gold standard for the diagnosis of myositis or myonecrosis, a low intensity signal on T1 and high intensity signal on T2 at the affected muscle belly can be as conclusive as imaging studies...
January 30, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28127478/neurological-complications-following-blood-transfusions-in-sickle-cell-anemia
#12
Hana Alharbi, Nayaab Khawar, Jolanta Kulpa, Anne Bellin, Simona Proteasa, Revathy Sundaram
In Sickle Cell Anemia (SCA) patient blood transfusions are an important part of treatment for stroke and its prevention. However, blood transfusions can also lead to complications such as Reversible Posterior Leukoencephalopathy Syndrome (RPLS). This brief report highlights two cases of SCA who developed such neurological complications after a blood transfusion. RLPS should be considered as the cause of neurologic finding in patients with SCA and hypertension following a blood transfusion.
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28116772/clinical-phenotypes-and-the-biological-parameters-of-congolese-patients-suffering-from-sickle-cell-anemia-a%C3%A2-first%C3%A2-report-from-central-africa
#13
Tite M Mikobi, Prosper Lukusa Tshilobo, Michel N Aloni, Pierre Z Akilimali, Georges Mvumbi-Lelo, Jean Marie Mbuyi-Muamba
BACKGROUND: The influence of phenotype on the clinical course and laboratory features of sickle cell anemia (SCA) is rarely described in sub-Saharan Africa. METHODS: A cross-sectional study was conducted in Kinshasa. A clinical phenotype score was built up. The following definitions were applied: asymptomatic clinical phenotype (ACP; score≤5), moderate clinical phenotype (MCP; score between 6 and 15), and severe clinical phenotype (SCP; score≥16). ANOVA test were used to compare differences among categorical variables...
January 23, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28115816/sickle-cell-trait-and-renal-function-in-hispanics-in-the-united-states-the-northern-manhattan-study
#14
Nicole D Dueker, David Della-Morte, Tatjana Rundek, Ralph L Sacco, Susan H Blanton
Sickle cell anemia (SCA) is a common hematological disorder among individuals of African descent in the United States; the disorder results in the production of abnormal hemoglobin. It is caused by homozygosity for a genetic mutation in HBB; rs334. While the presence of a single mutation (sickle cell trait, SCT) has long been considered a benign trait, recent research suggests that SCT is associated with renal dysfunction, including a decrease in estimated glomerular filtration rate (eGFR) and increased risk of chronic kidney disease (CKD) in African Americans...
January 19, 2017: Ethnicity & Disease
https://www.readbyqxmd.com/read/28111279/a-comprehensive-ethnically-diverse-library-of-sickle-cell-disease-specific-induced-pluripotent-stem-cells
#15
Seonmi Park, Andreia Gianotti-Sommer, Francisco Javier Molina-Estevez, Kim Vanuytsel, Nick Skvir, Amy Leung, Sarah S Rozelle, Elmutaz Mohammed Shaikho, Isabelle Weir, Zhihua Jiang, Hong-Yuan Luo, David H K Chui, Maria Stella Figueiredo, Abdulraham Alsultan, Amein Al-Ali, Paola Sebastiani, Martin H Steinberg, Gustavo Mostoslavsky, George J Murphy
Sickle cell anemia affects millions of people worldwide and is an emerging global health burden. As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of sickle-cell-disease-specific induced pluripotent stem cells (iPSCs) from patients of different ethnicities, β-globin gene (HBB) haplotypes, and fetal hemoglobin (HbF) levels. iPSCs stand to revolutionize the way we study human development, model disease, and perhaps eventually, treat patients...
January 18, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28102613/congolese-children-with-sickle-cell-trait-may-exhibit-glomerular-hyperfiltration-a-case-control-study
#16
Michel Ntetani Aloni, René Makwala Ngiyulu, Célestin Ndosimao Nsibu, Pépé Mfutu Ekulu, Jean Robert Makulo, Jean-Lambert Gini-Ehungu, Nazaire Mangani Nseka, François Bompeka Lepira
BACKGROUND: The prevalence of sickle cell trait is extremely high in sub-Saharan Africa. Recent studies have reported the impact of sickle cell carriers on renal function. However, data on renal abnormalities in children with sickle cell trait in this part of the world are unknown. In this report, we assess the glomerular function of children with sickle cell trait (SCT). METHODS: A case control study was conducted to assess the glomerular function in 43 Congolese children with sickle cell trait (Hb-AS) matched for age to 65 children with sickle cell anemia in steady state (Hb-SS) and 67 normal controls (Hb-AA)...
January 19, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28099557/patients-with-sickle-cell-disease-are-frequently-excluded-from-the-benefits-of-transcranial-doppler-screening-for-the-risk-of-stroke-despite-extensive-and-compelling-evidence
#17
Daniela Laranja Gomes Rodrigues, Samuel Ademola Adegoke, Rejane de Souza Macedo Campos, Josefina Aparecida Pellegrini Braga, Maria Stella Figueiredo, Gisele Sampaio Silva
Methods: Transcranial doppler was performed in accordance with the Stroke Prevention Trial in Sickle Cell Anemia Protocol. Results: Of the 396 patients, 69.5% had homozygous SS hemoglobin. The TCD result was abnormal in 4.8%, conditional in 12.6%, inadequate in 4.3% and abnormally low in 1% of patients. The highest mean flow velocities were 121±23.83cm/s and 124±27.21cm/s in the left and right middle cerebral artery respectively. A total of 28.8% patients (mean age 9...
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28099399/the-association-of-serum-25-hydroxyvitamin-d-with-biomarkers-of-hemolysis-in-pediatric-patients-with-sickle-cell-disease
#18
Samuel A Adegoke, Josefina A P Braga, Adekunle D Adekile, Maria S Figueiredo
Although vitamin D deficiency (VDD) has been linked to anemia among sickle cell disease (SCD), its relationship with hemolysis is unclear. Serum 25-hydroxyvitamin D and biomarkers of hemolysis (hemoglobin [Hb]/hematocrit, reticulocyte percentage, absolute reticulocyte, and lactate dehydrogenase [LDH] levels) in 36 hydroxyurea-naive SCD children were quantified. Correlations were significantly positive with Hb/hematocrit (r=0.40, P=0.017; r=0.45, P=0.006, respectively); inverse with reticulocyte percentage, absolute reticulocyte, and LDH (r=-0...
January 17, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28094443/validity-of-simple-clinical-and-biological-parameters-as-screening-tool-for-sickle-cell-anemia-for-referral-to-tertiary-center-in-highly-resource-constraints
#19
Bertin Tshimanga Kadima, Jean Lambert Gini-Ehungu, Fiston Ikwa Ndol Mbutiwi, John Tunda Bahati, Michel Ntetani Aloni
BACKGROUND: In the Democratic Republic of Congo, the incidence of sickle cell anemia (SCA) is estimated around 40 000 neonates per year. However, it is notoriously difficult to perform conventional electrophoresis in all hospitals and laboratories, especially at peripheral levels and rural area. A panel of multiple clinical and laboratory features that would enhance sickle cell disease were assessed for the detection of the disease in highly resource-scarce settings. METHODS: A prospective study was conducted in Kinshasa...
January 17, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28091440/nocturnal-enuresis-in-school-aged-children-with-sickle-cell-anemia-any-relationship-with-hyposthenuria
#20
C I Eneh, A N Ikefuna, H U Okafor, S N Uwaezuoke
BACKGROUND: Reports show that children with sickle-cell anemia (SCA) have a tendency for nocturnal enuresis when compared with their counterparts with normal hemoglobin. Although nocturnal enuresis in SCA has been attributed to several factors including tubular and even bladder dysfunction, its relationship with hyposthenuria has been questioned in some studies. AIM: The study aims to determine the relationship of hyposthenuria with nocturnal enuresis seen in school-aged children with SCA...
February 2017: Nigerian Journal of Clinical Practice
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