Retinal vascular occlusion and primary antiphospholipid syndrome. Report of 2 cases

INTRODUCTION: The antiphospholipid syndrome is characterized by the association of antiphospholipid antibodies and occlusive vascular events. The ocular vascular damage is described in the literature and may reveal the syndrome. It's diagnosis is important because this disease, which generally affects young people, may endanger ocular and vital prognosis. Two cases are reported. PATIENTS: Two young people aged 22 and 32 presented with a sudden unilateral loss of vision. In both cases, fundus examination and fluorescein angiography revealed a severe retinal vascular occlusion. For one patient, an antiphospholipid syndrome was discovered during etiological check-up. for the second one, it was associated with a heterozygote state mutation of Leiden V factor. In both cases the visual function of the affected eye was lost. DISCUSSION: In most cases central artery or vein occlusion means atherosclerosis. However, other etiologies must be studied in young patients. According to several studies: antiphospholipid syndrome has been detected in 5% to 33% of the patients showing a major vascular retinal obstruction. The association of thrombophilia must be considered because it increases the risk of thrombotic recurrence. CONCLUSION: The antiphospholipid syndrome must be studied in cases of numerous and severe retinal vascular obstruction occurring in young patients, even if vascular risks exist. This diagnosis is important because it may imply a long-lasting anticoagulative or an antiaggregative treatment to significantly reduce the risk of recurrent thrombotic events.     

Triple fracture of the superior shoulder suspensory complex

The authors present the case of a displaced fracture of the coracoid process associated with a displaced fracture of the acromion, an undisplaced fracture of the clavicule and fractures of the first to fifth ribs. Open reduction of the coracoid process fracture was performed. At the last follow-up, the coracohumeral distance was restored (10 mm), but the acromiohumeral distance in the sagittal place was decreased (5 mm). The authors recommend open reduction of displaced fractures around the rotator cuff to limit the risk of impingement between the cuff and the coracoid process or the acromion.     

Peau et fièvres récurrentes auto-inflammatoires

Auto-inflammatory diseases are characterized by unexplained and recurrent attacks of systemic inflammation often involving the skin, joints, or serosal membranes. They are due to a dysfunction or dysregulation of the innate immunity, which is the first line of defense against pathogens. Early recognition of these diseases by the clinician, especially by pediatricians encountering such pathologies in pediatric patients, is primordial to avoid complications. Skin manifestations, common in most auto-inflammatory diseases, are helpful for prompt diagnosis. After a brief physiopathological review, we will describe auto-inflammatory recurrent fevers by their main dermatological presentations: urticarial lesions, neutrophilic dermatoses, panniculitis, other maculopapular eruptions, dyskeratosis, skin vasculitis, and oral aphthous. We finally suggest a decision tree to help clinicians better target genetic exams in patients with recurrent fevers and dermatological manifestations.     

Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families

Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe ‘classical’ WAS or less severe ‘non-classical’ WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non-classical WAS. The expression of WASp was detected in the peripheral blood monocytes (PBMC) by flow cytometry, and five mutations were found by WAS gene sequencing, one of which had not been reported in the literature, namely frameshift mutation c.1240_1247delCCACTCCC (p. P414Sfs*41).     

Thermoresponsive hyaluronic acid nanogels as hydrophobic drug carrier to macrophages

Delivery systems for macrophages are particularly attractive since these phagocytic cells play a important role in immunological and inflammatory responses, also acting as host cells for microorganisms that are involved in deadly infectious diseases, such as leishmaniasis. Hyaluronic acid (HA) is specifically recognized by macrophages that are known to express HA receptors. Therefore, in this study, we focused on HA-based nanogels as drug carriers for these cells. The drug delivery was validated in an in vivo study on mice using intravital two-photon laser scanning microscopy. HA derivatives were modified with a biocompatible oligo(ethylene glycol)-based thermoresponsive polymer to form nanogels. These HA conjugates were readily prepared by varying the molar mass of initial HA and the degree of substitution via radical-mediated thiol-ene chemistry in aqueous solution. The derivatives were shown to self-assemble into spherical gel particles with diameters ranging from 150 to 214 nm above 37 °C. A poorly water-soluble two-photon dye was successfully loaded into the nanogels during this self-assembly process. In vitro cellular uptake tests using a RAW 264.7 murine macrophage cell line showed successful intracellular delivery of the hydrophobic dye. After intravenous injection in mice, the nanogels circulated freely in the blood but were rapidly phagocytized within 13 min by circulating macrophages and stored in the liver and spleen, as observed by two-photon microscopy. Benefit can be thus expected in using such a delivery system for the liver and spleen macrophage-associated diseases.     

Core–shell ZnO:Ga-SiO2 nanocrystals: limiting particle agglomeration and increasing luminescence via surface defect passivation

Heat treatment is needed to increase the luminescence intensity of ZnO:Ga particles, but it comes at the cost of higher particle agglomeration. Higher agglomeration results in low transparency of scintillating powder when embedded in a matrix and constitutes one of the biggest disadvantages, besides low light yield and low stopping power, of ZnO:Ga powder. Limiting ZnO:Ga particle size is therefore a key step in order to prepare highly luminescent and transparent composites with prospects for optical applications. In this work, SiO₂ coating was successfully used to improve luminescence intensity or limitation of crystallite size growth during further annealing. Furthermore, ZnO:Ga and ZnO:Ga-SiO₂ core–shells were embedded in a polystyrene matrix.

Heat treatment is needed to increase the luminescence intensity of ZnO:Ga particles, but it comes at the cost of higher particle agglomeration.     

Multifactorial interactions involved in linear self-transport distance estimate: a place for time.

As the vestibular system is the only sensory organ whose primary function is self-motion detection, we examined the conditions under which the otoliths, which detect the linear acceleration of the head, could be used to estimate traveled distance. In order to isolate the contribution of the otoliths (with the somatosensory system) from contributions of the visual and motor systems subjects were transported in darkness. We initially hypothesized that self-transport with continuously varying linear velocity should facilitate distance computation by continuously stimulating the otoliths, and that active control of self-motion should also help subjects estimate the distance traveled. However, it was found that the distance covered during self-motion is actually better estimated when transport velocity is quasi-constant. Nevertheless, such estimates strongly depend upon velocity magnitude; subjects show an idiosyncratic preferred self-motion velocity for which distance measurements are most accurate. Furthermore, the active control of self-transport improves estimates of self-motion mainly because the subjects can then adopt a constant velocity, and more precisely their preferred one. It was finally found that subjects mentally count in order to assess their displacement length, and that time perception is indeed disturbed by varying self-motion velocity.     

Treatment of bilateral spontaneous dural carotid-cavernous fistulas by coils and sclerotherapy. Case report

A case of bilateral spontaneous carotid-cavernous fistulas producing increased intraocular pressure is reported. The fistulas lay between the meningeal branches of the internal carotid artery (ICA) and the cavernous sinus, but the ICA itself was not involved. Successful treatment was accomplished by the introduction of steel coils and a sclerotic liquid into the cavernous sinus via the distal superior ophthalmic vein.