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sickle cell trait

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https://www.readbyqxmd.com/read/28819933/nutcracker-syndrome-and-sickle-cell-trait
#1
Sean Verma, Mustafa Khaliqi, Kellee L Oller
No abstract text is available yet for this article.
August 17, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28815042/predictive-role-of-pd-l1-expression-in-the-response-of-renal-medullary-carcinoma-to-pd-1-inhibition
#2
Quaovi Sodji, Kandy Klein, Kavuri Sravan, Jigarkumar Parikh
BACKGROUND: Renal medullary carcinoma is one of the rarest malignancies arising from the kidney. Despite various aggressive therapeutic regimens, mortality remains significantly high (95%) with a median overall survival of 5 months. Furthermore, the scarcity of this malignancy renders randomized clinical trials impossible. We examined the expression of programmed death ligand 1 (PD-L1) in two new renal medullary carcinoma cases, investigated their responses to the PD-L1 inhibitor nivolumab and explored the predictive role of the rate of PD-L1 expression in such response...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28810839/relationships-between-sickle-cell-trait-malaria-and-educational-outcomes-in-tanzania
#3
Kevin Croke, Deus S Ishengoma, Filbert Francis, Julie Makani, Mathias L Kamugisha, John Lusingu, Martha Lemnge, Horacio Larreguy, Günther Fink, Bruno P Mmbando
BACKGROUND: Sickle Cell Trait (SCT) has been shown to be protective against malaria. A growing literature suggests that malaria exposure can reduce educational attainment. This study assessed the relationship and interactions between malaria, SCT and educational attainment in north-eastern Tanzania. METHODS: Seven hundred sixty seven children were selected from a list of individuals screened for SCT. Febrile illness and malaria incidence were monitored from January 2006 to December 2013 by community health workers...
August 15, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28807004/predictive-role-of-pd-l1-expression-in-the-response-of-renal-medullary-carcinoma-to-pd-1-inhibition
#4
Quaovi Sodji, Kandy Klein, Kavuri Sravan, Jigarkumar Parikh
BACKGROUND: Renal medullary carcinoma is one of the rarest malignancies arising from the kidney. Despite various aggressive therapeutic regimens, mortality remains significantly high (95%) with a median overall survival of 5 months. Furthermore, the scarcity of this malignancy renders randomized clinical trials impossible. We examined the expression of programmed death ligand 1 (PD-L1) in two new renal medullary carcinoma cases, investigated their responses to the PD-L1 inhibitor nivolumab and explored the predictive role of the rate of PD-L1 expression in such response...
August 15, 2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28805282/autologous-breast-reconstruction-in-sickle-cell-trait-a-fine-line-between-success-failure
#5
Danny A Young-Afat, Marije J Hoornweg, Martine A van Huizum
Autologous breast reconstructions are increasingly being performed. While increased risks for flap loss after free tissue transfer (FTT) in sickle cell patients are known to most plastic surgeons, risks for patients with sickle cell trait (SCT) are less known. Unfortunately, recommendations to prevent complications after FTT in SCT are still scarce. We present additional and novel surgical measures that we took aiming to enhance probabilities for successful FTT in a SCT patient undergoing autologous breast reconstruction...
August 14, 2017: Breast Journal
https://www.readbyqxmd.com/read/28797398/right-middle-lobe-collapse-and-pleural-effusion-in-an-18-year-old-man
#6
Joshua Patterson, David Graham, Alan George, Micah Will, Deena Sutter
An 18-year-old African American male subject presented to an acute care clinic with 3 days of productive cough, chills, pleuritic right chest pain, sore throat with hoarseness, congestion, and intermittent shortness of breath. He recently relocated to Texas from Georgia to undergo basic military training. He denied any other recent travel or contact with persons with pulmonary TB or other respiratory illnesses. His medical history was significant for glucose-6-phosphate dehydrogenase deficiency and sickle cell trait...
August 2017: Chest
https://www.readbyqxmd.com/read/28793894/prevalence-of-polymorphisms-in-glucose-6-phosphate-dehydrogenase-sickle-haemoglobin-and-nitric-oxide-synthase-genes-and-their-relationship-with-incidence-of-uncomplicated-malaria-in-iganga-uganda
#7
Catherine Nassozi Lwanira, Fred Kironde, Mark Kaddumukasa, Göte Swedberg
BACKGROUND: Host genetics play an important role in Plasmodium falciparum malaria susceptibility. However, information on host genetic factors and their relationships with malaria in the vaccine trial site of Iganga, Uganda is limited. The main objective of this study was to determine the prevalence of selected host genetic markers and their relationship to malaria incidence in the vaccine trial site of Iganga, Uganda. In a 1-year longitudinal cohort study, 423 children aged below 9 years were recruited and their malaria episodes were investigated...
August 9, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28783617/an-age-dependent-response-to-hydroxyurea-in-pediatric-sickle-cell-anemia-patients-with-alpha-thalassemia-trait
#8
Lisa Figueiredo, Kerry Morrone, Catherine Wei, Karen Ireland, Hillel W Cohen, Catherine Driscoll, Deepa Manwani
Hydroxyurea (HU) is a key drug therapy for individuals with sickle cell anemia (SCA), yet its clinical and hematologic responses can be variable. Various studies have reported the role of α-thalassemia as one of the most prevalent heritable traits that may modify HU response. We provide data from 62 pediatric and adolescent patients with SCA, 26 with co-inherited α-thalassemia trait. Our data suggest that altered hematologic and clinical responses to HU therapy are noted in adolescent SCA individuals with co-inherited α-thalassemia trait...
July 31, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28766840/high-birth-prevalence-of-sickle-cell-disease-in-northwestern-tanzania
#9
Emmanuela E Ambrose, Julie Makani, Neema Chami, Tulla Masoza, Rogatus Kabyemera, Robert N Peck, Erasmus Kamugisha, Alphaxard Manjurano, Neema Kayange, Luke R Smart
BACKGROUND: Worldwide, hemoglobinopathies affect millions of children. Identification of hemoglobin disorders in most sub-Saharan African countries is delayed until clinical signs of the disease are present. Limited studies have been conducted to understand their prevalence and clinical presentation among newborns in resource-limited settings. METHODOLOGY: This was a prospective cohort study. Newborns (aged 0-7 days) at two hospitals in Northwestern Tanzania were enrolled and followed prospectively for 6 months...
August 2, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28756023/febrile-rhabdomyolysis-of-unknown-origin-in-refugees-coming-from-west-africa-through-the-mediterranean
#10
Silvia Odolini, Federico Gobbi, Lorenzo Zammarchi, Simona Migliore, Paola Mencarini, Marco Vecchia, Nicoletta di Lauria, Simona Schivazappa, Tony Sabatini, Leonardo Chianura, Elisa Vanino, Daniela Piacentini, Paola Zanotti, Anna Bussi, Alessandro Bartoloni, Zeno Bisoffi, Francesco Castelli
OBJECTIVES: Cases of undiagnosed severe febrile rhabdomyolysis in refugees coming from West Africa, mainly from Nigeria, has been observed since May 2014. The aim of this study was to describe this phenomenon. METHODS: This was a multicentre retrospective observational study of cases of febrile rhabdomyolysis reported from May 2014 to December 2016 in 12 Italian centres. RESULTS: A total of 48 cases were observed, mainly in young males. The mean time interval between the day of departure from Libya and symptom onset was 26...
July 26, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28748896/sickled-erythrocytes-in-urine-as-a-clue-to-the-diagnosis-of-sickle-cell-trait
#11
Shanu Srivastava, Rashmi Srivastava, K G Ghorpade
Sickled erythrocytes in patients of sickle cell trait with microscopic hematuria have rarely been reported so far. A 30-year-old female underwent delivery of a healthy full-term baby by cesarean section. However, postcesarean, she had pain in abdomen and fever, for which she was advised blood and urine examination. The hemogram suggested mild leukocytosis with neutrophilia and the urine showed red blood cells, some of which were sickled. The patient was advised hemoglobin electrophoresis which suggested sickle cell trait (Hb-AS)...
July 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28745855/managing-acute-complications-of-sickle-cell-disease-in-pediatric-patients-digest
#12
Sathyaseelan Subramaniam, Jennifer H Chao, Pradip Chaudhari
Sickle cell disease is a chronic hematologic disease with a variety of acute, and often recurring, complications. Vaso-occlusive crisis, a unique but common presentation in sickle cell disease, can be challenging to manage. Acute chest syndrome is the leading cause of death in patients with sickle cell disease, occurring in more than half of patients who are hospitalized with a vaso-occlusive crisis. Uncommon diagnoses in children, such as stroke, priapism, and transient red cell aplasia, occur more frequently in patients with sickle cell disease and necessitate a degree of familiarity with the disease process and its management...
November 22, 2016: Pediatric Emergency Medicine Practice
https://www.readbyqxmd.com/read/28735881/recurrent-bilateral-quadriceps-tendon-rupture-due-to-indirect-trauma-in-a-patient-with-sickle-cell-trait-a-case-report
#13
Nathan Sherman, Rory Sandberg, Jolene Hardy
No abstract text is available yet for this article.
July 20, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28730133/cysts-of-gastrointestinal-origin-in-children-varied-presentation
#14
Charu Tiwari, Hemanshi Shah, Mukta Waghmare, Deepa Makhija, Kiran Khedkar
PURPOSE: Abdominal cysts of gastrointestinal origin are rare. Their rarity and varied clinical presentations make their pre-operative diagnosis difficult. METHODS: Fourteen patients with histological diagnosis of cysts of gastrointestinal origin admitted between 2009 and 2015 were retrospectively analyzed with respect to age, sex, clinical presentation, diagnostic modality, site and type of cyst, management, outcome and follow-up. RESULTS: The mean age at presentation was 4 years and there were six males and eight females...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28716439/renal-cell-carcinoma-unclassified-with-medullary-phenotype-poorly-differentiated-adenocarcinomas-overlapping-with-renal-medullary-carcinoma
#15
Deepika Sirohi, Steven C Smith, Chisato Ohe, Piergiuseppe Colombo, Mukul Divatia, Ema Dragoescu, Priya Rao, Michelle S Hirsch, Ying-Bei Chen, Rohit Mehra, Mahul B Amin
Renal medullary carcinoma (RMC) is a highly aggressive renal cell carcinoma, arising in the collecting system, and requiring careful correlation with status of sickle cell trait. A panel of international experts has recently proposed provisional diagnostic terminology, renal cell carcinoma, unclassified, with medullary phenotype (RCCU-MP), based on encountering an extraordinarily rare tumor with RMC morphology and immunophenotype in an individual proven not to have a hemoglobinopathy. Herein, we extend this observation to a cohort of five such tumors, morphologically similar to RMC, lacking SMARCB1 expression by immunohistochemistry, but each without evidence of a hemoglobinopathy...
July 14, 2017: Human Pathology
https://www.readbyqxmd.com/read/28705443/-impact-of-sickle-cell-trait-on-arterial-stiffness-in-african-subjects
#16
V Ouédraogo, R Soleti, I Signolet, M Diaw, M Hallab, A Samb, R Andriantsitohaina, A Ba, G Lefthériotis
Sickle cell trait (SCT) is the benign condition of sickle cell disease. Often asymptomatic, the carriers of the sickle cell trait have hemorheological disturbances with increased oxidative stress compared to healthy subjects. These disturbances can lead to structural and functional changes in large vessels. The aim of the study was to measure arterial stiffness, an independent marker of subclinical atherosclerosis, SCT carriers compared to sickle cell anemia (SCA) subjects. Nine SCT carriers aged 32±9 years (7 men) were compared to 14 SCA subjects aged 29±9 years (2 men) and 22 control subjects aged 34±9 years (11 men) recruited by the National blood transfusion center (CNTS) in Dakar (Senegal)...
February 2017: J Med Vasc
https://www.readbyqxmd.com/read/28699692/granulocyte-colony-stimulating-factor-administration-among-hemoglobin-s-trait-donors-a-single-center-experience-from-the-eastern-mediterranean-region
#17
Cigdem Gereklioglu, Suheyl Asma, Aslı Korur, Songul Tepebası, Pelin Aytan, Mahmut Yeral, Ilknur Kozanoglu, Can Boga, Hakan Ozdogu
BACKGROUND AND OBJECTIVE: Assessment of Hemoglobin S trait donors has gained importance together with the increased allogeneic peripheral stem cell transplant activity for sickle cell disease in the regions where the disease is prevalent. Outcomes of Granulocyte-Colony Stimulating Factor (G-CSF) administration are obscure for hemoglobin S trait donors. This study aims at investigating the incidence of hemoglobin S carrier status and outcomes of G-CSF administration among donors who live in Eastern Mediterranean region...
July 12, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28697316/renal-medullary-carcinoma-the-kidney-cancer-that-affects-individuals-with-sickle-cell-trait-and-disease
#18
Ofelia A Alvarez
No abstract text is available yet for this article.
July 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28658777/detection-of-compound-heterozygous-sickle-cell-%C3%AE-thalassaemia-in-a-patient-with-extreme-weakness-mild-jaundice-and-moderate-anaemia-a-case-report
#19
Subhash Chandra, Mostafa Ali, Pooja Mishra, Ashok Kumar Kapoor, Yamini Jindal
A 16-year-old female complained of extreme weakness. She had moderate anaemia; her Haemoglobin (Hb) was 7.7 gm/dl. Peripheral blood smear showed few sickled red cells. Sickle cell test was positive. High-Performance Liquid Chromatography (HPLC) revealed elevated levels of HbS (38.4%) and HbF (15.7%). In addition, HbA2 concentration was 3.8% and HbA concentration was 42.1%. Results suggested a diagnosis of compound heterozygous sickle cell-β(+) thalassaemia. Sickle cell test was also positive with blood of patient's brother; Hb HPLC examination showed relatively low concentration of HbS (25...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28610635/cellular-function-reinstitution-of-offspring-red-blood-cells-cloned-from-the-sickle-cell-disease-patient-blood-post-crispr-genome-editing
#20
Jianguo Wen, Wenjing Tao, Suyang Hao, Youli Zu
BACKGROUND: Sickle cell disease (SCD) is a disorder of red blood cells (RBCs) expressing abnormal hemoglobin-S (HbS) due to genetic inheritance of homologous HbS gene. However, people with the sickle cell trait (SCT) carry a single allele of HbS and do not usually suffer from SCD symptoms, thus providing a rationale to treat SCD. METHODS: To validate gene therapy potential, hematopoietic stem cells were isolated from the SCD patient blood and treated with CRISPR/Cas9 approach...
June 13, 2017: Journal of Hematology & Oncology
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