Vol 1-3 Short Communication

Using Metaphors to Explain Immunotherapy to Cancer Patients

Rachel S. Hianik1, Mehmet A. Bilen1,2, Ragini R. Kudchadkar1,2, Margie D. Dixon1, Melinda L. Yushak1,2, Rebecca D. Pentz1,2*

1Winship Cancer Institute, USA

2Emory University School of Medicine, USA

BACKGROUND: Immunotherapy is continually being integrated into cancer care, but there is no research on communication strategies to explain it. We examine how metaphors are being used in clinical oncology to describe immunotherapy to patients.

METHODS: We observed and audio-recorded 33 first-time conversations about immunotherapy. We took note of each metaphor used in each conversation and conducted a follow-up interview to assess patient understanding of the metaphor used.

RESULTS: Metaphors were used and understanding was assessed 43 times in the 33 conversations about immunotherapy. We describe 14 metaphors used to describe four immunotherapy topics. Patients understood the metaphors 54% of the time.

CONCLUSION: Metaphors are being used by providers as a way to describe immunotherapy in clinical oncology. We hope that the examples we provide can be adapted and expanded by other oncologists to assist them in communication with patients about immunotherapy.

DOI: 10.29245/2690-0009/2019/3.1108 View / Download Pdf
Vol 1-3 Case Report

Coats Plus Syndrome and Mutation of the TERT Gene: A Case Report

Typhaine Grenet1,2, Caroline Kannengiesser3,4,5, Raphael Borie3, 5, 6, 7, Audrey Giocanti-Aurégan2

1Centre d’imagerie et de Laser, 11 rue Antoine Bourdelle, Paris, France

2Ophthalmology department, Avicenne hospital, Paris 13 University, APHP, Bobigny, France

3Université Paris Diderot, Paris, France

4Laboratoire de Génétique, APHP, Hôpital Bichat, Paris, France

5Service de Pneumologie A, Centre de Compétence des Maladies Pulmonaires Rares, Paris, France

6DHU FIRE, Hôpital Bichat, APHP, Paris, France

7INSERM, Unité 1152, Paris, France

Purpose: To report a case of bilateral Coats Plus syndrome associated with a TERT gene deletion.

Case report: A 35-year-old man with a history of liver transplant, hematological impairment, and lung fibrosis due to a TERT gene mutation was referred for blurred vision in the right eye (RE). Ophthalmological examination revealed bilateral peripheral ischemia of the retina associated with bilateral peripheral telangiectasia and telangiectasia at the posterior pole of the RE responsible for macular edema, confirmed by multimodal imaging.

Conclusion: In this young patient with bilateral Coats-like lesions associated with systemic liver and lung failures due to a TERT mutation, we report a case of Coats plus syndrome due to a TERT mutation.

DOI: 10.29245/2690-0009/2019/3.1107 View / Download Pdf
Vol 2-1 Research Article

Folates in Children with Down Syndrome and the Impact of Dietary Supplementation

Ryan S. Funk3*, Jordan Jones2, Kishore Polireddy3, Kanecia O. Zimmerman1, Gregory Reed4, Nasreen Talib2, Mara L. Becker1

1Department of Pediatrics, Duke University Hospital, Durham, NC, USA

2Department of Pediatrics, Children’s Mercy Kansas City, Kansas City, MO, USA

3Department of Pharmacy Practice, University of Kansas, Kansas City, KS, USA

4University of Kansas Cancer Center, University of Kansas Medical Center, Kansas City, KS, USA

Down syndrome (DS) is the most frequent genetic cause of intellectual disability and recent work has demonstrated that this population has a reduction in erythrocyte (RBC) folate concentrations, which may represent a mechanistic basis for enhanced anti-folate drug toxicity observed in these patients. In this study, folate concentrations were measured in whole blood, plasma, and RBCs in an independent cohort of children with DS (n=85); and confirms previous findings that this population has lower circulating folate concentrations compared to a control cohort consisting of juvenile arthritis patients (n=99). RBC folate concentrations were 29% lower in patients with DS, and by multivariable regression analysis reduced RBC folate concentrations were associated with: DS diagnosis (p=0.0019), lack of dietary folate supplementation (p=0.006) and female gender (p=0.03). Patients with DS supplemented with dietary folate in the form of a daily multivitamin (MVI) had 25% higher RBC folate concentrations (p=0.07), and were comparable to the RBC folate concentrations in the control cohort not receiving an MVI. However, girls with DS did not exhibit the same degree of folate repletion as boys who were supplemented with MVI.

DOI: 10.29245/2690-0009/2020/1.1110 View / Download Pdf
Vol 2-1 Research Article

Resting Energy Expenditure in Neurofibromatosis Type 1: Indirect Calorimetry versus Predictive Equations

Marcio L.R. Souza*, Ann K. Jansen, Luiz O.C. Rodrigues, Darlene L.S. Vilela, Aline S. Martins, Juliana F. Souza, Nilton A. Rezende

Federal University of Minas Gerais, Belo Horizonte - MG, Brazil

Increased resting metabolism, by indirect calorimetry (IC), has been observed in neurofibromatosis type 1 (NF1) patients as compared to in the unaffected population. As IC is not an easily available method, the present study aimed to measure resting energy expenditure (REE) in adults with NF1 by using IC and determine the most appropriate equation to estimate the predictive value of this variable in clinical practice. Twenty-six NF1 patients aged between 18 and 45 years underwent nutritional assessment, including weight, height, and body mass index. Body composition was measured by dual energy x-ray absorptiometry (DXA). RMR was measured by IC (mREE) and by eight different equations (pREE). Statistical analysis were carried out by Kolmogorov-Smirnov test, paired student’s t test, and Bland and Altman plots. The mean age was 34.3 ± 6.1 years. The mean mREE was 1633.9 ± 471.1 kcal, and the pREE ranged from 1244.6 ± 239.9 kcal to 1519.9 ± 271.1. The best predictive REE equation for individuals with NF1 was the WHO equation (weight and height), given its small difference (although significant; P = 0.041) from the values obtained using the gold standard, good median of adequacy (92.0%), and high accuracy (46.2%). This study showed that all the eight predictive equations underestimated REE in NF1 patients (with large differences and low accuracy when compared to a gold standard method). IC is the preferred way to avoid over or underestimation of REE in NF1 patients.

DOI: 10.29245/2690-0009/2020/1.1111 View / Download Pdf
Vol 2-1 Research Article

Assessment of Adiposity in Neurofibromatosis Type 1: Comparison between Dual Energy X-ray Absorptiometry and Conventional Methods

Marcio L.R. Souza*, Ann K. Jansen, Luiz O.C. Rodrigues, Darlene L.S. Vilela, Aline S. Martins, Juliana F. Souza, Nilton A. Rezende

Federal University of Minas Gerais, Belo Horizonte - MG, Brazil

Neurofibromatosis type 1 (NF1) is a genetic disease, characterized by multiple neural tumors as well as cutaneous symptoms. A simpler, non-invasive and cost-effective method for measuring adiposity would be useful in the care of individuals with NF1. Dual energy X-ray absorptiometry (DXA) is the standard method for this assessment but it is not widely accessible in daily clinical practice. This study aimed to compare body compositions measured using bioelectrical impedance analysis (BIA) and skinfold thickness (ST) predictive equations to those measured with DXA in twenty-six individuals with NF1. Body fat percentage (BF%) was predicted using DXA, five ST-equations and four BIA-equations. The BF% measured by DXA was 26.6 ± 7.3 and 37.4 ± 7.2 % for men and women, respectively. The best predictor of BF% was the Sun et al. BIA equation with a smaller difference compared to DXA (P=0.664), better median of adequacy (101.0%) and accuracy of 46.2%. For males, the Kyle et al. and Lohman BIA equations were the best predictors (accuracy: 78.6 and 64.3%, respectively). For females, all nine equations showed lower differences compared to DXA (P<0.001 for all equations). Among ST equations, Durnin and Womersley showed a smaller difference, greater median of adequacy and percentage of adequacy compared to DXA, even when stratified by sex. This study showed that BIA equations present better adequacy and accuracy compared to SK equations. Nevertheless, these equations should be used with caution in this population due to the variations observed in comparison to DXA.

DOI: 10.29245/2690-0009/2020/1.1112 View / Download Pdf
Vol 2-1 Research Article

Hemoglobin AE, AO-Arab and SO-Arab Genotypes in Burkina Faso: Hematological Parameters, Genotypic and Allelic Frequencies of Hemoglobinopathies

Marie Simone Traore1,2, Theodora M. Zohoncon1,2,3,4, Paul Ouedraogo3, Abdoul Karim Ouattara1,2, Dorcas Obiri-Yeboah5, Issoufou Tao1,2, Geoffroy Ganane1,2,3, Marius Belemgnegre3, Theodore Boro3, Fabienne Sanou3, Jacques Simpore1,2,3,4*

1Laboratory of Molecular Biology and Genetics (LABIOGENE), University Joseph KI-ZERBO, Ouagadougou, Burkina Faso

2Pietro Annigoni Biomolecular Research Center (CERBA), Ouagadougou, Burkina Faso

3Saint Camille Hospital of Ouagadougou (HOSCO), Ouagadougou, Burkina Faso

4Faculty of Medicine, University Saint Thomas d'Aquin (USTA), Ouagadougou, Burkina Faso

5Department of Microbiology and Immunology, School of Medical Sciences, University of Cape Coast, PMB, Cape Coast, Ghana

Introduction: The prevalence of hemoglobinopathies (HbC and HbS) is relatively high in West Africa, especially in Burkina Faso. The objectives of this study were to characterize the hematological parameters and to determine the genotypic and allelic frequencies of patients affected with hemoglobinopathies.

Methods: Hemoglobin electrophoresis was carried out in a total of 7,789 patients attending Saint Camille Hospital of Ouagadougou during the period of study. Among them, hemogram was performed for 1014 patients.

Results: The age of the study population ranged from 1 to 40 years, with a mean of 24.86 ± 12.69 years. The age group 16 to 35 were the most seen at medical center hospital and represented 3,035 out of 7,789 (38.96 %) having performed hemoglobin electrophoresis. The overall hemoglobin electrophoretic profiles revealed 223 SS, 718 SC, 2 SO-Arab, 2 AO-Arab, 3 AE, 152 CC, 799 AS, 1315 AC, and 4575 AA. The relative genotypic frequency was 58.73 % AA, 2.86 % SS and 9.22 % SC while the allelic frequencies were 0.7234 for HbA, 0.1500 for HbC, 0.1261 for HbS, 0.0002 for HbE and 0.0003 for HbO-Arab. The hemogram profiles of patients with major sickle cell syndrome (MSCS) revealed respectively for mean hemoglobin levels, number of red blood cells and mean corpuscular volume a values of 8.19 ± 1.39 g/dL ; 2.97 ± 0.73 1012/L ; 81.86 ± 12.82 fL in SS patients and 10.93 ± 1.68 g/dL ; 4.38 ± 0.77 1012/L ; 70.81 ± 7.11 fL in SC individuals.

Conclusion: The results of the present study are in line with the previous one describing the high prevalence of HbC and HbS hemoglobinopathies in Burkina Faso. Indeed, the genotypic and allelic frequencies of patients with MSCS are increasing due to the accessibility of medical care for sickle cell patients. The study diagnoses for the first-time hemoglobin AE, AO-Arab and SO-Arab genotypes in Burkina Faso.

DOI: 10.29245/2690-0009/2020/1.1109 View / Download Pdf