Introduction: Previous studies in sickle cell disease (SCD) patients have demonstrated low muscle mass (MM) and high fat mass (FM) percentages compared to individuals with normal hemoglobin. The relationship between t...Introduction: Previous studies in sickle cell disease (SCD) patients have demonstrated low muscle mass (MM) and high fat mass (FM) percentages compared to individuals with normal hemoglobin. The relationship between the evolutions of body composition (BC) parameters in the active SCD population is not well elucidated. The aim of the present study was to assess the body composition in active adult SCD patients in sub-Saharan Africa during the inter-critical period. Methodology: We conducted a descriptive and analytical cross-sectional study over an 8-month period. Eighteen SCD patients (sex ratio = 1) reported regular physical activity (RPA) corresponding to level 3 (RPA of moderate intensity) of the 4-level Saltin-Grimby physical activity scale were recruited. Anthropometric and BC parameters such as BMI, percentage FM and percentage MM were evaluated using an impedance meter. Results: The study population had a mean age of 26 ± 7 years and a mean BMI of 20.5 ± 1.9 kg/m2. We found a significantly higher percentage of FM in women compared to the men (25.6% ± 10.2% vs 11.1% ± 2.1%;p = 0.001). For the proportion of MM, all the women had a normal percentage. The men mostly had high levels of MM compared with reference norms. Men had significantly greater MM percentages than women (45.4% ± 1.8% vs. 26.5% ± 1.4%;p Conclusion: RPA appears to have positive effects on BC in active population with SCD, and a greater-than-expected effect was observed on MM in male patients. Promoting regular, adapted physical activity would be a promising way of improving BC parameters and quality of life in the SCD population. Further studies with larger cohorts will be needed to better substantiate these results.展开更多
Hemoglobinosis C occurs mainly in Africa and America with a high frequency in West Africa. In Senegal, homozygous hemoglobinopathy CC constitutes a very rare profile of which only 3 cases are followed in the clinical ...Hemoglobinosis C occurs mainly in Africa and America with a high frequency in West Africa. In Senegal, homozygous hemoglobinopathy CC constitutes a very rare profile of which only 3 cases are followed in the clinical hematology department of Dakar. The 1<sup>st</sup> case is a 49-year-old female patient, with notion of 1<sup>st</sup> degree consanguinity, and a long history of abdominal pain who presented a poorly tolerated anemic syndrome and splenomegaly. The biological assessment showed moderate anemia (7.6 g/dL) with microcytic hypochromia and a CC profile (HbC = 99.2%;HbA2 = 0.8%) on hemoglobin electrophoresis. The second case was a 22-year-old female patient with a notion of 2<sup>nd</sup> degree consanguinity who presented a Chauffard triad. The haemogram showed mild anaemia (11 g/dL), microcytic and hypochromic. Hemoglobin electrophoresis confirmed a CC profile (HbC = 95.3%;HbA2 = 4.7%). The third patient was 27 years old, with a history of diffuse abdominal pain and 2<sup>nd</sup> degree consanguinity. The haemogram and haemoglobin electrophoresis confirmed the CC profile (HbC = 94.6%;HbA2 = 5.4%). The negativity of the Emmel test in front of this presentation suggestive of sickle cell disease means that this type of hemoglobinopathy is diagnosed late in our regions. We therefore recommend the systematic performance of hemoglobin electrophoresis in the presence of any chronic hemolytic anemia.展开更多
Introduction: Sickle cell disease (SCD) is the most common genetic disease in the world. Vitamin D deficiency has been described in several patients with this disease. We report the case of a patient in whom osteomala...Introduction: Sickle cell disease (SCD) is the most common genetic disease in the world. Vitamin D deficiency has been described in several patients with this disease. We report the case of a patient in whom osteomalacia revealed the disease. Observation: The patient was 35 years old, not an alcoholic, not exposed to toxic products, with a family history of sickle cell disease in her 4 brothers and sisters. She reports the appearance of diffuse bone pain but which predominates in the axial skeleton, the ribs and the rhizomelic zones having motivated several hospitalizations. These pains are recurrent with new attacks on the lumbar spine, and sacroiliac joints with intense pain. Paraclinical examinations revealed: normal long bone radiographs without bone lysis, a CT scan of the sacroiliac joints without any aspect of sacroiliitis, but revealing multiple vertebral condensing bone lesions in streaks, diffuse at the level of the iliac wings with osteolysis surrounded by non aggressive osteocondensation. Densitometry was normal, vitamin D deficiency was noted at 29 ng/mL with elevated alkaline phosphatase, normal concentrations of Calcemia and Phosphoremia respectively at 96 mg/L and 36 mg/L, contrasting with hyperparathyroidism with a blood level of parathyroid hormone elevated to twice the normal level at 104.4 pg/mL It should be noted that the patient had received per os vitamin D supplementation before coming to us. The diagnosis of osteomalacia secondary to vitamin D deficiency complicated by secondary hyperparathyroidism was retained. Given the family history, we looked for the existence of sickle cell disease which was finally confirmed on hemoglobin electrophoresis with an AS profile. Conclusion: The association between vitamin D deficiency and sickle cell disease is not uncommon, and is explained by the ethnic origin, race, skin color, genetics and physiological features of patients with this disease rather than the disease itself.展开更多
<span style="font-family:""><span style="font-family:Verdana;">Acute panmyelosis with myelofibrosis (APMF) is a subtype of acute myeloid leukemia (AML) classified among the categor...<span style="font-family:""><span style="font-family:Verdana;">Acute panmyelosis with myelofibrosis (APMF) is a subtype of acute myeloid leukemia (AML) classified among the category of “AML, not otherwise specified” in the WHO 2016 classification of hematopoietic tumors. It is a rare, fatal hematological neoplasm that is characterized by acute onset of cytopenias and bone marrow fibrosis in the absence of splenomegaly or fibrosis related morphological changes in the red blood cells. The difficulty of diagnosis and management explains why APMF is rarely reported in Africa. We report here the case of a 30-year-old man who presented with dizziness, palpitations and dyspnea. Diagnosis of APMF was retained on bone marrow histology and immunohistochemistry which showed bone marrow fibrosis and high cellularity with majority of myeloid blast cells. The patient was treated by low dose cytarabine monotherapy 30 mg/m</span><sup><span style="font-family:Verdana;">2</span></sup><span style="font-family:Verdana;"> per week. At 3 months of treatment, the patient was transfusion-independent, with normalization of hemoglobin and platelets counts. However, the death occurred after 8 months. This case highlights the diagnosis specificity and management of AMPF, knowing the number of potential differential diagnoses and difficulties of its therapeutic management.展开更多
文摘Introduction: Previous studies in sickle cell disease (SCD) patients have demonstrated low muscle mass (MM) and high fat mass (FM) percentages compared to individuals with normal hemoglobin. The relationship between the evolutions of body composition (BC) parameters in the active SCD population is not well elucidated. The aim of the present study was to assess the body composition in active adult SCD patients in sub-Saharan Africa during the inter-critical period. Methodology: We conducted a descriptive and analytical cross-sectional study over an 8-month period. Eighteen SCD patients (sex ratio = 1) reported regular physical activity (RPA) corresponding to level 3 (RPA of moderate intensity) of the 4-level Saltin-Grimby physical activity scale were recruited. Anthropometric and BC parameters such as BMI, percentage FM and percentage MM were evaluated using an impedance meter. Results: The study population had a mean age of 26 ± 7 years and a mean BMI of 20.5 ± 1.9 kg/m2. We found a significantly higher percentage of FM in women compared to the men (25.6% ± 10.2% vs 11.1% ± 2.1%;p = 0.001). For the proportion of MM, all the women had a normal percentage. The men mostly had high levels of MM compared with reference norms. Men had significantly greater MM percentages than women (45.4% ± 1.8% vs. 26.5% ± 1.4%;p Conclusion: RPA appears to have positive effects on BC in active population with SCD, and a greater-than-expected effect was observed on MM in male patients. Promoting regular, adapted physical activity would be a promising way of improving BC parameters and quality of life in the SCD population. Further studies with larger cohorts will be needed to better substantiate these results.
文摘Hemoglobinosis C occurs mainly in Africa and America with a high frequency in West Africa. In Senegal, homozygous hemoglobinopathy CC constitutes a very rare profile of which only 3 cases are followed in the clinical hematology department of Dakar. The 1<sup>st</sup> case is a 49-year-old female patient, with notion of 1<sup>st</sup> degree consanguinity, and a long history of abdominal pain who presented a poorly tolerated anemic syndrome and splenomegaly. The biological assessment showed moderate anemia (7.6 g/dL) with microcytic hypochromia and a CC profile (HbC = 99.2%;HbA2 = 0.8%) on hemoglobin electrophoresis. The second case was a 22-year-old female patient with a notion of 2<sup>nd</sup> degree consanguinity who presented a Chauffard triad. The haemogram showed mild anaemia (11 g/dL), microcytic and hypochromic. Hemoglobin electrophoresis confirmed a CC profile (HbC = 95.3%;HbA2 = 4.7%). The third patient was 27 years old, with a history of diffuse abdominal pain and 2<sup>nd</sup> degree consanguinity. The haemogram and haemoglobin electrophoresis confirmed the CC profile (HbC = 94.6%;HbA2 = 5.4%). The negativity of the Emmel test in front of this presentation suggestive of sickle cell disease means that this type of hemoglobinopathy is diagnosed late in our regions. We therefore recommend the systematic performance of hemoglobin electrophoresis in the presence of any chronic hemolytic anemia.
文摘Introduction: Sickle cell disease (SCD) is the most common genetic disease in the world. Vitamin D deficiency has been described in several patients with this disease. We report the case of a patient in whom osteomalacia revealed the disease. Observation: The patient was 35 years old, not an alcoholic, not exposed to toxic products, with a family history of sickle cell disease in her 4 brothers and sisters. She reports the appearance of diffuse bone pain but which predominates in the axial skeleton, the ribs and the rhizomelic zones having motivated several hospitalizations. These pains are recurrent with new attacks on the lumbar spine, and sacroiliac joints with intense pain. Paraclinical examinations revealed: normal long bone radiographs without bone lysis, a CT scan of the sacroiliac joints without any aspect of sacroiliitis, but revealing multiple vertebral condensing bone lesions in streaks, diffuse at the level of the iliac wings with osteolysis surrounded by non aggressive osteocondensation. Densitometry was normal, vitamin D deficiency was noted at 29 ng/mL with elevated alkaline phosphatase, normal concentrations of Calcemia and Phosphoremia respectively at 96 mg/L and 36 mg/L, contrasting with hyperparathyroidism with a blood level of parathyroid hormone elevated to twice the normal level at 104.4 pg/mL It should be noted that the patient had received per os vitamin D supplementation before coming to us. The diagnosis of osteomalacia secondary to vitamin D deficiency complicated by secondary hyperparathyroidism was retained. Given the family history, we looked for the existence of sickle cell disease which was finally confirmed on hemoglobin electrophoresis with an AS profile. Conclusion: The association between vitamin D deficiency and sickle cell disease is not uncommon, and is explained by the ethnic origin, race, skin color, genetics and physiological features of patients with this disease rather than the disease itself.
文摘<span style="font-family:""><span style="font-family:Verdana;">Acute panmyelosis with myelofibrosis (APMF) is a subtype of acute myeloid leukemia (AML) classified among the category of “AML, not otherwise specified” in the WHO 2016 classification of hematopoietic tumors. It is a rare, fatal hematological neoplasm that is characterized by acute onset of cytopenias and bone marrow fibrosis in the absence of splenomegaly or fibrosis related morphological changes in the red blood cells. The difficulty of diagnosis and management explains why APMF is rarely reported in Africa. We report here the case of a 30-year-old man who presented with dizziness, palpitations and dyspnea. Diagnosis of APMF was retained on bone marrow histology and immunohistochemistry which showed bone marrow fibrosis and high cellularity with majority of myeloid blast cells. The patient was treated by low dose cytarabine monotherapy 30 mg/m</span><sup><span style="font-family:Verdana;">2</span></sup><span style="font-family:Verdana;"> per week. At 3 months of treatment, the patient was transfusion-independent, with normalization of hemoglobin and platelets counts. However, the death occurred after 8 months. This case highlights the diagnosis specificity and management of AMPF, knowing the number of potential differential diagnoses and difficulties of its therapeutic management.
