Early posterior vitreous detachment is associated with LAMA5 dominant mutation

Background: Extracellular matrix molecular components, previously linked to multisystem syndromes include collagens, fibrillins and laminins. Recently, we described a novel multisystem syndrome caused by the c.9418G>A p.(V3140M) mutation in the laminin alpha-5 (LAMA5) gene, which affects connective tissues of all organs and apparatus in a three generation family. In the same family, we have also reported a myopic trait, which, however, was linked to the Prolyl 4-hydroxylase subunit alpha-2 (P4HA2) gene. Results of investigation on vitreous changes and their pathogenesis are reported in the present study.Materials and Methods: Nineteen family individuals underwent complete ophthalmic examination including best-corrected visual acuity (BCVA), fundus examination, fundus photography, intraocular pressure measurement, axial length measurement using ocular biometry, Goldmann visual field examination, standard electroretinogram, SD-OCT. Segregation analysis of LAMA5 and P4HA2 mutations was performed in enrolled members.Results: The vitreous alterations fully segregated with LAMA5 mutation in both young and adult family members. Slight reduction of retinal thickness and peripheral retinal degeneration in only two patients were reported.Conclusions: In this work we showed that PVD is a common trait of LAMA5 multisystem syndrome, therefore occurring as an age-unrelated trait. We hypothesize that the p.(V3140M) mutation results in a reduction of retinal inner limiting membrane (ILM) stability, leading to a derangement in the macromolecular structure of the vitreous gel, and PVD. Further investigations will be necessary to elucidate the role of wild type and mutated LAMA5 in the pathogenesis of PVD.     

Assessment of the Antimetastatic Activity of Extracts of Filipedula ulmaria Depending on Extractant

Pharmaceutical Chemistry Journal - Three extracts were produced from the above-ground part of the meadowsweet Filipendula ulmaria (L.) Maxim. using water, 40% ethanol, and 70% ethanol. Comparative...     

Haemophilic Pseudotumour: Surgical Management of a Rare Case

Haemophilia is a common cause of genetically inherited bleeding disorders. Pseudotumours occur in 1–2 % of persons with severe forms of haemophilia. These are a result of repeated haemorrhage into soft tissues, subperiosteum or a site of bone fracture with inadequate resorption of the extravasated blood. There are a number of therapeutic alternatives for this dangerous condition: surgical removal, percutaneous management, irradiation, embolization etc. In this case report, we describe the natural history, clinical course and successful surgical management of a patient with haemophilia who presented with a massive pseudotumour. We also briefly review the relevant literature on the various therapeutic modalities that have been implemented in the management of this rare complication. Though surgeons may be averse to operate on haemophiliacs, primary surgical management as done in our case may prove to be the definitive treatment option for such patients.     

Prejudice and the Plate: Effects of Weight Bias in Nutrition Judgments

As millions of people turn to social media for health information, better understanding the factors that guide health-related judgments and perceptions in this context is imperative. We report on two Web experiments (n > 400 total) examining the power of society’s widespread weight bias and related stereotypes to influence nutrition judgments in social media spaces. In Experiment 1, meals were judged as lower in nutritional quality when the person who recommended them (the source) was depicted as obese rather than of normal weight, an effect mediated by stereotypic beliefs about the source as a generally unhealthy person. Experiment 2 replicated this effect, which—notably—remained significant when controlling for objective nutritional information (calories and fat content). Results highlight spillover effects of weight bias that extend beyond person perception to color impressions of objects (here, food) that are associated with stigmatized attributes. Implications for everyday nutrition judgments and public health are considered.     

A new approach to prevent HIV transmission: Project Protect intervention for recently infected individuals

Past research suggests that as many as 50% of onward human immunodeficiency virus (HIV) transmissions occur during acute and recent HIV infection. It is clearly important to develop interventions which focus on this highly infectious stage of HIV infection to prevent further transmission in the risk networks of acutely and recently infected individuals. Project Protect tries to find recently and acutely infected individuals and prevents HIV transmission in their risk networks. Participants are recruited by community health outreach workers at community-based HIV testing sites and drug users' community venues, by coupon referrals and through referrals from AIDS clinics. When a network with acute/recent infection is identified, network members are interviewed about their risky behaviors, network information is collected, and blood is drawn for HIV testing. Participants are also educated and given prevention materials (condoms, syringes, educational materials); HIV-infected participants are referred to AIDS clinics and are assisted with access to care. Community alerts about elevated risk of HIV transmission are distributed within the risk networks of recently infected. Overall, 342 people were recruited to the project and screened for acute/recent HIV infection. Only six index cases of recent infection (2.3% of all people screened) were found through primary screening at voluntary counseling and testing (VCT) sites, but six cases of recent infection were found through contact tracing of these recently infected participants (7% of network members who came to the interview). Combining screening at VCT sites and contact tracing the number of recently infected people we located as compared to VCT screening alone. No adverse events were encountered. These first results provide evidence for the theory behind the intervention, i.e., in the risk networks of recently infected people there are other people with recent HIV infection and they can be successfully located without increasing stigma for project participants.