scholarly journals Predictors of musculoskeletal manifestations in paediatric patients presenting with sickle cell disease at a tertiary teaching hospital in Lusaka, Zambia

2020 ◽  
Vol 1 (6) ◽  
pp. 175-181
Author(s):  
Raymond Mpanjilwa Musowoya ◽  
Patrick Kaonga ◽  
Alick Bwanga ◽  
Catherine Chunda-Lyoka ◽  
Christopher Lavy ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Teaching Hospital ◽  
Clinical Manifestations ◽  
Classification Systems ◽  
University Teaching ◽  
Cell Disease ◽  
Tertiary Teaching ◽  
Musculoskeletal Manifestations

Aims Sickle cell disease (SCD) is an autosomal recessive inherited condition that presents with a number of clinical manifestations that include musculoskeletal manifestations (MM). MM may present differently in different individuals and settings and the predictors are not well known. Herein, we aimed at determining the predictors of MM in patients with SCD at the University Teaching Hospital, Lusaka, Zambia. Methods An unmatched case-control study was conducted between January and May 2019 in children below the age of 16 years. In all, 57 cases and 114 controls were obtained by systematic sampling method. A structured questionnaire was used to collect data. The different MM were identified, staged, and classified according to the Standard Orthopaedic Classification Systems using radiological and laboratory investigations. The data was entered in Epidata version 3.1 and exported to STATA 15 for analysis. Multiple logistic regression was used to determine predictors and predictive margins were used to determine the probability of MM. Results The cases were older median age 9.5 (interquartile range (IQR) 7 to 12) years compared to controls 7 (IQR 4 to 11) years; p = 0.003. After multivariate logistic regression, increase in age (adjusted odds ratio (AOR) = 1.2, 95% confidence interval (CI) 1.04 to 1.45; p = 0.043), increase in the frequency of vaso-occlusive crisis (VOC) (AOR = 1.3, 95% CI 1.09 to 1.52; p = 0.009) and increase in percentage of haemoglobin S (HbS) (AOR = 1.18, 95% CI 1.09 to 1.29; p < 0.001) were significant predictors of MM. Predictive margins showed that for a 16-year-old the average probability of having MM would be 51 percentage points higher than that of a two-year-old. Conclusion Increase in age, frequency of VOC, and an increase in the percentage of HbS were significant predictors of MM. These predictors maybe useful to clinicians in determining children who are at risk. Cite this article: Bone Joint Open 2020;1-6:175–181.

scholarly journals Predictors of musculoskeletal manifestations in paediatric patients presenting with sickle cell disease at a tertiary teaching hospital in Lusaka, Zambia

2020 ◽  
Vol 1 (6) ◽  
pp. 175-181
Author(s):  
Raymond Mpanjilwa Musowoya ◽  
Patrick Kaonga ◽  
Alick Bwanga ◽  
Catherine Chunda-Lyoka ◽  
Christopher Lavy ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Teaching Hospital ◽  
Clinical Manifestations ◽  
Classification Systems ◽  
University Teaching ◽  
Cell Disease ◽  
Tertiary Teaching ◽  
Musculoskeletal Manifestations

Aims Sickle cell disease (SCD) is an autosomal recessive inherited condition that presents with a number of clinical manifestations that include musculoskeletal manifestations (MM). MM may present differently in different individuals and settings and the predictors are not well known. Herein, we aimed at determining the predictors of MM in patients with SCD at the University Teaching Hospital, Lusaka, Zambia. Methods An unmatched case-control study was conducted between January and May 2019 in children below the age of 16 years. In all, 57 cases and 114 controls were obtained by systematic sampling method. A structured questionnaire was used to collect data. The different MM were identified, staged, and classified according to the Standard Orthopaedic Classification Systems using radiological and laboratory investigations. The data was entered in Epidata version 3.1 and exported to STATA 15 for analysis. Multiple logistic regression was used to determine predictors and predictive margins were used to determine the probability of MM. Results The cases were older median age 9.5 (interquartile range (IQR) 7 to 12) years compared to controls 7 (IQR 4 to 11) years; p = 0.003. After multivariate logistic regression, increase in age (adjusted odds ratio (AOR) = 1.2, 95% confidence interval (CI) 1.04 to 1.45; p = 0.043), increase in the frequency of vaso-occlusive crisis (VOC) (AOR = 1.3, 95% CI 1.09 to 1.52; p = 0.009) and increase in percentage of haemoglobin S (HbS) (AOR = 1.18, 95% CI 1.09 to 1.29; p < 0.001) were significant predictors of MM. Predictive margins showed that for a 16-year-old the average probability of having MM would be 51 percentage points higher than that of a two-year-old. Conclusion Increase in age, frequency of VOC, and an increase in the percentage of HbS were significant predictors of MM. These predictors maybe useful to clinicians in determining children who are at risk. Cite this article: Bone Joint Open 2020;1-6:175–181.

Cognitive Function Of Nigerian Children With Sickle Cell Disease

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 1008-1008
Author(s):  
Olubusola Oluwole ◽  
Robert Noll ◽  
Julie Makani ◽  
Enrico M Novelli
Keyword(s):  
Working Memory ◽  
Cognitive Function ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Teaching Hospital ◽  
Cognitive Deficits ◽  
Processing Speed ◽  
University Teaching ◽  
Cell Disease ◽  
Intelligence Scale

Abstract Background Sickle cell disease (SCD) -related neurological complications include overt stroke, silent infarctions and cognitive impairment (CI). CI significantly impacts developmental growth and quality of life. Despite the high prevalence of SCD in sub-Saharan Africa, there is limited information on the burden of neurological dysfunction. To address this gap, we conducted a study to elucidate the prevalence and correlates of CI in SCD-children in an urban tertiary care setting in Nigeria. Method This case-control, cross-sectional study was approved by the University of Pittsburgh IRB, Lagos University Teaching Hospital (LUTH) and Lagos State University Teaching Hospital (LASUTH) in Nigeria. Participants were recruited from the LUTH sickle cell clinic and the Sickle Cell Foundation-associated clinics, which included a transcranial Doppler (TCD) clinic. Participants were English-speaking children between the ages 6-16 with laboratory-diagnosed homozygous SCD (HbSS, sickle cell anemia). Children who had an on-going sickle cell crisis or who received a blood transfusion within 3 months were excluded from the study. HbAA siblings of the patients and unaffected age-matched children from the LASUTH pediatric primary care clinic were recruited as control subjects. For a comprehensive assessment of cognitive function, subtests of the Wechsler Intelligence Scale for Children (WISC IV) were administered to assess processing speed (Symbol Search, Coding subtests) and Working Memory (Digit Span, Symbol search subtests) indices. Baseline hemoglobin levels were obtained via a Stat-site hemoglobin analyzer, and oxygen saturation levels were obtained using a pulse oximeter. Baseline demographic data was obtained by surveying the parents/guardians. Lastly, children recruited from the Sickle Cell Foundation TCD clinic (n=24) were stratified by stroke risk levels (standard, conditional, high and indeterminate) based on the TCD velocity values. Results A total of 56 children diagnosed with sickle cell disease (M=29, mean age=9.2, SD: 2.76) and 42 unaffected children (M=24, mean age= 9.41, SD: 2.75) participated in this study. We found a higher prevalence of cognitive deficits, especially in areas of processing speed (p=0.013) and short-term auditory memory (p=0.002) in SCD patients as compared to controls. There was also a close association with working memory deficits (p=0.07). Surprisingly, we did not find an association between the cognitive performance of SCD children and their levels of anemia, oxygen levels or body mass index. TCD high risk level was marginally associated with a lower hemoglobin and severe anemia (p=0.05) although there was no significant correlation with working memory and processing speed indices. Conclusion Children with SCD in Nigeria suffer from cognitive deficits in the areas of memory and attention when evaluated with subtests of the Wechsler Intelligence Scale for Children. We found that, unlike other studies of cognitive function in SCD, our study did not find a correlation between cognitive function and hemoglobin level. It is, therefore, possible that other local environmental or disease-specific factors may be associated with CI in our SCD cohort, or that anemia may affect other cognitive domains not explored by our research. Larger, longitudinal studies should be performed to further elucidate the cognitive function of pediatric SCD patients in Nigeria so that appropriate, locally targeted, preventive interventions can be developed. Disclosures: No relevant conflicts of interest to declare.

scholarly journals GDF -15 and Severity Scores in Sickle Cell Disease Patients Attending Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria

2020 ◽  
pp. 31-37
Author(s):  
Chide Okocha ◽  
Patrick Manafa ◽  
Joy Anowi ◽  
Vera Manafa ◽  
Chilota Efobi
Keyword(s):  
Sickle Cell Disease ◽  
Disease Severity ◽  
Sickle Cell ◽  
Teaching Hospital ◽  
Therapeutic Target ◽  
University Teaching ◽  
Cell Disease ◽  
Potential Therapeutic Target ◽  
Anambra State ◽  
Ischaemia Reperfusion

Aim: Granulocyte differentiation factor 15 (GDF15) is a growth factor and biomarker for many disorders where Ischaemia Reperfusion Injury (IRI) is pathophysiologically relevant. Hence the need to evaluate GDF-15 as a biomarker in Sickle Cell Disease (SCD). Study Design: This is a cross sectional study. Place and Duration of Study: Department of Haematology, Nnamdi University Teaching Hospital, Nnewi, Anambra state, Nigeria, between January and December 2018. Methods: Ninety subjects were randomly recruited with haemoglobin (Hb) phenotypes SS (test), AS and AA (controls); numbering 30, 28 and 32 respectively. Disease severity was determined by calculating an objective score. 5 mls of blood was collected and used to determine Full Blood Count (FBC), haemoglobin Phenotype and GDF-15 levels (by Enzyme Linked Immunosorbent assay).  Data collected was analysed using Statistical Package for Social Sciences software version 20 (SPSS Inc., IL, Chicago, USA). P< 0.05 was considered as significant. Results: GDF-15 level was found to be significantly different in the different HB phenotypes p= 0.005 and correlated negatively with sickle cell disease severity (r= -0.307, p= 0.098). The difference between median GDF-15 levels of HBSS subjects with mild and moderate disease was statistically significant at p= 0.01. Conclusion: We hypothesize that GDF-15 may be a potential therapeutic target for intervention against ischaemia/reperfusion induced micro- vascular injury.  Natural GDF-15 mimetics may be useful in taking advantage of this potential therapeutic target.

scholarly journals A comparative study of carbohydrate antigen 19-9 in sickle cell disease subjects and controls in Nnamdi Azikiwe University Teaching Hospital, Nnewi, Nigeria

2018 ◽  
Vol 18 (4) ◽  
pp. 1003
Author(s):  
Patrick Manafa ◽  
Chide Okocha ◽  
Benedict Nwogho ◽  
John Aneke ◽  
Paul Smith Davis Okpara ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Comparative Study ◽  
Sickle Cell ◽  
Teaching Hospital ◽  
Carbohydrate Antigen ◽  
University Teaching ◽  
Cell Disease

scholarly journals Genome editing using CRISPR-Cas9 to create the HPFH genotype in HSPCs: An approach for treating sickle cell disease and β-thalassemia

2016 ◽  
Vol 113 (38) ◽  
pp. 10661-10665 ◽  
Author(s):  
Lin Ye ◽  
Jiaming Wang ◽  
Yuting Tan ◽  
Ashley I. Beyer ◽  
Fei Xie ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Genome Editing ◽  
Sickle Cell ◽  
Globin Gene ◽  
Autologous Transplantation ◽  
Clinical Manifestations ◽  
Fetal Hemoglobin ◽  
Compound Heterozygous ◽  
Cell Disease ◽  
Hematopoietic Stem

Hereditary persistence of fetal hemoglobin (HPFH) is a condition in some individuals who have a high level of fetal hemoglobin throughout life. Individuals with compound heterozygous β-thalassemia or sickle cell disease (SCD) and HPFH have milder clinical manifestations. Using RNA-guided clustered regularly interspaced short palindromic repeats-associated Cas9 (CRISPR-Cas9) genome-editing technology, we deleted, in normal hematopoietic stem and progenitor cells (HSPCs), 13 kb of the β-globin locus to mimic the naturally occurring Sicilian HPFH mutation. The efficiency of targeting deletion reached 31% in cells with the delivery of both upstream and downstream breakpoint guide RNA (gRNA)-guided Staphylococcus aureus Cas9 nuclease (SaCas9). The erythroid colonies differentiated from HSPCs with HPFH deletion showed significantly higher γ-globin gene expression compared with the colonies without deletion. By T7 endonuclease 1 assay, we did not detect any off-target effects in the colonies with deletion. We propose that this strategy of using nonhomologous end joining (NHEJ) to modify the genome may provide an efficient approach toward the development of a safe autologous transplantation for patients with homozygous β-thalassemia and SCD.

Gross hematuria in sickle cell disease at Tokoin teaching hospital in Lomé (Togo)

2015 ◽  
Vol 25 (4) ◽  
pp. 432-433
Author(s):  
K.M. Guedenon ◽  
A.D. Gbadoe ◽  
N.B. Nouwakpo
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Teaching Hospital ◽  
Cell Disease ◽  
Gross Hematuria
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