Two Cases of Orbital Myositis as a Rare Feature of Lyme Borreliosis

Myositis has been reported as a rare manifestation of Lyme disease, and the Lyme disease spirochetes can be an important consideration in the differential diagnosis of unusual cases of myositis, especially in patients who live in or travel to endemic areas. We report the case of two patients who presented with focal orbital myositis which are rare localization for Lyme disease. Myositis were confirmed by magnetic resonance imaging. Diagnosis criteria for Borrelia burgdorferi (B. burgdorferi) infection was supported by (i) medical history (tick bite in an endemic area), (ii) systemic clinical findings (Erythema migrans, neurological manifestation or arthritis), (iii) positive Lyme serology and/or the detection of B. burgdorferi DNA by polymerase chain reaction, as well as (iv) exclusion of other infectious and inflammatory causes. The current cases are reviewed in the context of findings from previous myositis descriptions

Etude du strabisme chez des enfants de 0 à 15 ans suivis a Lubumbashi, République Démocratique du Congo: analyse des aspects épidémiologiques et cliniques

Introduction: Le strabisme est défini comme un syndrome à double composante : motrice et  sensorielle. Le but de ce travail est de décrire les aspects épidémiologiques et cliniques du strabisme chez l'enfant congolais de 0 à 15 ans dans la ville de Lubumbashi.Méthodes: Il s'agit d'une étude descriptive longitudinale sur les aspects épidémiologiques et cliniques du strabisme chez l'enfant congolais de 0 à 15 ans dans la ville de Lubumbashi entre Décembre 2012 à  Décembre 2013. Nous avons recueilli l'âge des patients, leur sexe, leur provenance, le type de strabisme, la réfraction, le fond d'oeil, les antécédents (hérédité) ainsi que le type de la déviation strabique observé sur 70 patients.Résultats: Nous avons observé 70 cas de strabisme manifeste dont 31 cas (44,28%) étaient dans la  tranche d'âge comprise entre 0 et 5 ans. L'âge moyen de nos patients était de 6,7 ans avec une  prédominance du sexe féminin, soit 51,42%. Le strabisme était convergent dans 65,71%, divergent dans 30%, et vertical dans 4,28%. Les ésotropies représentaient 65 cas (92,85%), quatre cas (5,71%)  avaient un antécédent familial de strabisme au premier degré de parenté, 21 cas (30%) au second degré de parenté, 45 cas (64,28%) n'avaient pas cet antécédent. L'oeil gauche était le plus dominé dans 30% des cas. Les facteurs favorisant le strabisme étaient inconnus dans 54 cas (77,14%). Le strabisme était secondaire à l'hypermétropie chez 32 patients (42,71%).Conclusion: La fréquence du strabisme dans la ville de Lubumbashi chez les enfants âgés de 0 à 15 ans  est de 0,50%. Comme dans la plupart des études sur le strabisme de l'enfant, c'est l'ésotropie qui est la  déviation la plus commune.Key words: Enfant congolais, strabisme, hypermétropie, ésotropi

Cytokine Profiles in Toxoplasmic and Viral Uveitis

BackgroundUveitis is a major cause of visual impairment throughout the world. Analysis of cytokine profiles in aqueous humor specimens may provide insight into the physiopathological processes that underly retinal damage in this context MethodsUsing a multiplex assay, we determined the concentrations of 17 cytokines and chemokines in aqueous humor specimens obtained from patients with ocular toxoplasmosis or viral uveitis and compared these concentrations with those in specimens obtained from patients with noninfectious intermediate uveitis or cataract ResultsFive mediators (interleukin [IL]-8, monocyte chemoattractant protein-1, tumor necrosis factor-α, IL-4, and IL-10) were detected in >50% of patients in all groups. In contrast, IL-5 and IL-12 were specific for ocular toxoplasmosis, and granulocyte monocyte colony-stimulating factor and IL-1 were specific for viral uveitis; these mediators could present specific markers for diagnostic purposes. Interferon-γ, IL-6, and macrophage inflammatory protein-1β were common markers of ocular toxoplasmosis and viral uveitis. IL-17 was a common marker of ocular toxoplasmosis and intermediate uveitis ConclusionsWe found specific cytokine profiles for each type of uveitis, with large interindividual variations and no etiological or clinical correlations. Ocular cytokine mapping contributes to a better understanding of the physiopathology of specific forms of uveitis and provides guidance for new targeted treatmen

Proteasome subunit variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

The ubiquitin–proteasome system degrades ubiquitin‐modified proteins to maintain protein homeostasis and to control signalling. Whole‐genome sequencing of patients with severe deafness and early‐onset cataracts as part of a neurological, sensorial and cutaneous novel syndrome identified a unique deep intronic homozygous variant in the PSMC3 gene, encoding the proteasome ATPase subunit Rpt5, which lead to the transcription of a cryptic exon. The proteasome content and activity in patient\u27s fibroblasts was however unaffected. Nevertheless, patient\u27s cells exhibited impaired protein homeostasis characterized by accumulation of ubiquitinated proteins suggesting severe proteotoxic stress. Indeed, the TCF11/Nrf1 transcriptional pathway allowing proteasome recovery after proteasome inhibition is permanently activated in the patient\u27s fibroblasts. Upon chemical proteasome inhibition, this pathway was however impaired in patient\u27s cells, which were unable to compensate for proteotoxic stress although a higher proteasome content and activity. Zebrafish modelling for knockout in PSMC3 remarkably reproduced the human phenotype with inner ear development anomalies as well as cataracts, suggesting that Rpt5 plays a major role in inner ear, lens and central nervous system development

Malformations colobomateuses du globe oculaire (impact fonctionnel et prise en charge.)

STRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Les endophtalmies en 2004 (aspects diagnostiques et perspectives thérapeutiques.)

STRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Résultats sensori-moteurs du traitement des cataractes congénitales (étude rétrospective)

STRASBOURG-Medecine (674822101) / SudocSudocFranceF

Epiretinal Membrane in Dome-Shaped Macula Complicated with Serous Retinal Detachment: Transient Efficacy of Surgery

Dome-shaped macula (DSM) is an entity recently described as a convex anterior protrusion of the macular area within a posterior myopic staphyloma. Specific complications were associated with DSM, like serous retinal detachment (SRD). We describe a woman presenting with a decreased vision at 20/50. SD-OCT scans were performed, showing a macular bulge. SRD was present and an epiretinal membrane could also be observed. Fluorescein angiography and indocyanin green angiography did not show any leakage nor choroidal neovascularization. Epiretinal membrane peeling was performed, and 3 months after surgery, SRD completely disappeared. However, SRD reappeared 1 year after surgery and enlarged within 2 years following surgery. In conclusion, two mechanisms could be considered for physiopathology of SRD: first, the epiretinal membrane may have exerted traction on the macular retina, second, vitreous body might constitute a tank for cytokines and/or other factors, triggering subretinal fluid accumulation, leading to SRD