Results 41 to 50 of about 5,070,713 (217)

Growth and Pubertal Development in Children With Sickle Cell Anaemia at Muhimbili National Hospital 2010 [PDF]

, 2011
Sickle cell anaemia (SCA) is a genetic disorder with multisystem manifestations. Paediatricians and general practitioners dealing with these patients need to know the overview of the genetics, diagnosis, clinical manifestations, and treatment of sickle ...
Jacob, Theopista
core  

Haptoglobin gene polymorphisms and interleukin-6 and -8 levels in patients with sickle cell anemia

Revista Brasileira de Hematologia e Hemoterapia, 2015
BACKGROUND: Haptoglobin genotypes, and interleukin-6 and -8 participate in the pathophysiology of sickle cell anemia. The expression of cytokines is regulated by genetic mechanisms however the effect of haptoglobin polymorphisms on these cytokines is not
Bruna Spinella Pierrot-Gallo, Perla Vicari, Sandra Satiko Matsuda, Samuel Ademola Adegoke, Grazielle Mecabo, Maria Stella Figueiredo   +5 more
doaj   +1 more source

Hematological and hemorheological determinants of the six-minute walk test performance in children with sickle cell anemia. [PDF]

PLoS ONE, 2013
The six-minute walk test is a well-established submaximal exercise reflecting the functional status and the clinical severity of sickle cell patients. The aim of the present cross-sectional study was to investigate the biological determinants of the six ...
Xavier Waltz, Marc Romana, Marie-Dominique Hardy-Dessources, Yann Lamarre, Lydia Divialle-Doumdo, Marie Petras, Vanessa Tarer, Régine Hierso, Kizzy-Clara Baltyde, Benoît Tressières, Marie-Laure Lalanne-Mistrih, Fréderic Maillard, Olivier Hue, Maryse Etienne-Julan, Philippe Connes   +14 more
doaj   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Microalbuminuria as Predictor of Early Glomerular Injury in Children and Adolescents with Sickle Cell Anaemia at Muhimbili National Hospital Dar es Salaam, Tanzania 2012 [PDF]

, 2012
Microalbuminuria (MA) is the earliest marker of various diseases affecting the renal system. Its relevance in children and adolescents with sickle cell anaemia (SCA), who are known to be prone to renal complications, has not been fully explored in our ...
Christopher, Richard, Christopher, R.
core  

Relationship between pulmonary and cardiac abnormalities in sickle cell disease: implications for the management of patients

Revista Brasileira de Hematologia e Hemoterapia, 2016
Objective: To evaluate the association between clinical, pulmonary, and cardiovascular findings in patients with sickle cell disease and, secondarily, to compare these findings between sickle cell anemia patients and those with other sickle cell diseases.
Maria Christina Paixão Maioli, Andrea Ribeiro Soares, Ricardo Bedirian, Ursula David Alves, Cirlene de Lima Marinho, Agnaldo José Lopes   +5 more
doaj   +1 more source

ANK1 and EPB41 Variants and The Risk of Glucocorticoid‐Induced Osteonecrosis

Arthritis &Rheumatology, EarlyView.
Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen, Xianmin Zhu, Zhongzhong Chen, Wei Chen, Hussam Alkaissi, Zeng Zhang, Yun Gao, Junhui Yin, Xiangtian Yu, Qiong Fu, Youshui Gao, Zhenzhong Zhu, Qianying Cai, Pengwei Zhang, Weibin Chen, Xin Zhao, Xiaojin Wu, Karel Pacak, Dongxu Jin, Chunde Bao, Zhengping Zhuang, Changqing Zhang   +21 more
wiley   +1 more source

Coexistent sickle cell anemia and autoimmune hemolytic anemia in two adolescents [PDF]

Einstein (São Paulo)
The development of alloantibodies or autoantibodies is a complication observed in sickle cell disease. Autoimmunization occurs in 7.6-12% of chronically or intermittently transfused patients with sickle cell disease; however, the clinical implications of
Vinícius Reis Soares, Bruna Paccola Blanco, Carla Luana Dinardo, Marlene Pereira Garanito   +3 more
doaj   +1 more source

Evaluating the (comparative) safety profile of the novel oral polio vaccine type 2 using individual case safety reports in VigiBase

British Journal of Clinical Pharmacology, EarlyView.
Aim Novel oral polio vaccine type 2 (nOPV2) was used under the WHO emergency use listing for circulating vaccine‐derived polio virus (cVDPV) outbreaks from 2021 to 2023. We assessed nOPV2 adverse events following immunization (AEFIs) and compared its safety profile to other vaccines using VigiBase.
Comfort Kunak Ogar, Malede Mequanent Sisay, Leonardo Roque‐Pereira, Christine Leopold, Patrick C. Souverein, Aukje K. Mantel‐Teeuwisse, Marie L. De Bruin   +6 more
wiley   +1 more source

Hemoglobin E Disorders in South Gujarat – A Study Of 35 Cases

National Journal of Community Medicine, 2012
Background:Among the inherited disorders of blood, hemoglobinopathies and thalassemia constitute a major bulk of non-communicable genetic disease in India.
B M Jha, Bhavna Gamit, Jitendra Patel, Kunal J Prajapati   +3 more
doaj