Rheumatoid arthritis in Senegal: a comparison between patients coming from rural and urban areas, in an urban tertiary health care center in Senegal

Several studies have suggested that rheumatoid arthritis (RA) is uncommon in rural sub-Saharan Africa. The aim of this study is to determine the potential differences between patients with RA living in rural areas and those living in urban areas. We performed a cross-sectional study from June 2006 to May 2009. We included all patients with RA (1987 ACR criteria) seen at the Rheumatology Unit of the Le Dantec Teaching Hospital, Dakar, Senegal. We compared the main socio-demographic and clinical characteristics of patients living in rural areas to those living in urban areas. We included 180 patients in our study, of whom, 143 (79.4?%) lived in urban areas and 37 (20.6?%) in rural areas. The median age was 44?years [range 34–55] in patients from rural areas vs. 41?years [range 30–53] in patients from urban areas, without any statistical significance (p?=?0.24). Patients under the age of 60 mostly lived in urban areas (p?=?0.03). The extra-articular manifestations were significantly more frequent in patients living in rural areas (p?=?0.02). There was no statistical significance when comparing the delay in diagnosis, number of swollen joints, disease activity, hand deformities, and concentration of autoantibodies (RF and ACPA) in both populations. The percentage of patients seen from the rural areas of Senegal is low (20.6?%) compared to those seen from the urban areas. The number of extra-articular manifestations is the main difference between patients living in rural and urban areas. The role played by environmental factors seems important. Further incidence studies are needed.     

Retrograde leptomeningeal venous approach for dural arteriovenous fistulas at foramen magnum

A 72-year-old man presented with sudden right homonymous hemianopsia. Work-up imaging revealed a left occipital haematoma and an arteriovenous fistula supplied by the meningeal branches to the clivus from the left vertebral artery (VA) with a rostral venous reflux into cortical veins. A microcatheter was advanced through brainstem veins into the venous collector. A compliant balloon was placed in the left VA facing the origin of feeders. The balloon was inflated to protect the vertebrobasilar circulation from embolic migration. Onyx was injected by the transvenous catheter. Control angiogram revealed exclusion of the lesion.Informed consent was obtained from the patient.     

Detecting and monitoring leprosy neuropathy: which test to chose?]

The purpose of the study is to propose a simple and reproducible test for assessing nerve damage in leprosy. It is applied to the sensory branch of the radial nerve of leprosy patients, prior to any treatment. Skin sensitivity is measured by means of a needle, a drop of ether and some calibrated filaments. These three tests are collated and compared with the results of electromyographic examination of the nerve. The filament calibrated to 0.2 grams gives optimum sensitivity (0.79) and excellent specificity (0.95) in relation to the electromyographic test. Its routine use in the field is simple and reproducible and should result in a greater number of patients receiving the treatment they need.     

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Isolated mitochondrial complex IV (cytochrome c oxidase) deficiency is an important cause of mitochondrial disease in children and adults. It is genetically heterogeneous, given that both mtDNA-encoded and nuclear-encoded gene products contribute to structural components and assembly factors. Pathogenic variants within these proteins are associated with clinical variability ranging from isolated organ involvement to multisystem disease presentations. Defects in more than 10 complex IV assembly factors have been described including a recent Lebanese founder mutation in PET100 in patients presenting with Leigh syndrome. We report the clinical and molecular investigation of a patient with a fatal, neonatal-onset isolated complex IV deficiency associated with multiorgan involvement born to consanguineous, first-cousin British Asian parents. Exome sequencing revealed a homozygous truncating variant (c.142C>T, p.(Gln48*)) in the PET100 gene that results in a complete loss of enzyme activity and assembly of the holocomplex. Our report confirms PET100 mutation as an important cause of isolated complex IV deficiency outside of the Lebanese population, extending the phenotypic spectrum associated with abnormalities within this gene.     

Primary tumor cells of myeloma patients induce interleukin-6 secretion in long-term bone marrow cultures

Long-term bone marrow cultures (LTBMC) from patients with multiple myeloma (MM) and normal donors were analyzed for immunophenotype and cytokine production. Both LTBMC adherent cells from myeloma and normal donor origin expressed CD10, CD13, the adhesion molecules CD44, CD54, vascular cell adhesion molecule 1, very late antigen 2 (VLA-2), and VLA- 5, and were positive for extracellular matrix components fibronectin, laminin, and collagen types 3 and 4. LTBMC from myeloma patients and normal donors spontaneously secreted interleukin-6 (IL-6). However, levels of IL-6 correlated with the stage of disease; highest levels of IL-6 were found in LTBMC from patients with active myeloma. To identify the origin of IL-6 production, LTBMC from MM patients and normal donors were cocultured with BM-derived myeloma cells and cells from myeloma cell lines. IL-6 was induced by plasma cell lines that adhered to LTBMC such as ARH-77 and RPMI-8226, but not by nonadhering cell lines U266 and FRAVEL. Myeloma cells strongly stimulated IL-6 secretion in cocultures with LTBMC adherent cells from normal donors and myeloma patients. When direct cellular contact between LTBMC and plasma cells was prevented by tissue-culture inserts, no IL-6 production was induced. This implies that intimate cell-cell contact is a prerequisite for IL-6 induction. Binding of purified myeloma cells to LTBMC adherent cells was partly inhibited by monoclonal antibodies against adhesion molecules VLA-4, CD44, and lymphocyte function-associated antigen 1 (LFA-1) present on the plasma cell. Antibodies against VLA-4, CD29, and LFA-1 also inhibited the induced IL-6 secretion in plasma cell-LTBMC cocultures. In situ hybridization studies performed before and after coculture with plasma cells indicated that LTBMC adherent cells produce the IL-6. These results suggest that the high levels of IL-6 found in LTBMC of MM patients with active disease are a reflection of their previous contact with tumor cells in vivo. These results provide a new perspective on tumor growth in MM and emphasize the importance of plasma cell-LTBMC interaction in the pathophysiology of MM.