A genome wide association study identifies new genes potentially associated with eyelid sagging

Sagging eyelid is considered as an outward of skin ageing and may cause medical issues. However, little is known about the factors involved in sagging eyelid. The study, which aims at determining genetic risk factors for eyelid sagging, was conducted in a cohort of 502 unrelated Caucasian women living in the Paris region. All included participants were aged between 44 and 70 years old (mean age, 57.6 years old). The severity of sagging eyelid was graded in 6 categories by a dermatologist using standardized photographs of the face. A genome wide association study adjusted on potential risk factors (including age and smoking habits) was conducted to identify genetic associations. Two single nucleotide polymorphisms in total linkage disequilibrium on chromosome 10, rs16927253 (P = 7.07 × 10^‐10) and rs4746957 (P = 1.06 × 10^‐8), were significantly associated with eyelid sagging severity. The rs16927253‐T and rs4746957‐A alleles showed a dominant protective effect towards eyelid sagging. These polymorphisms are located in intronic parts of the H2AFY2 gene which encodes a member of the H2A histone family and very close to the AIFM2 gene that induces apoptosis. Additionally, single nucleotide polymorphisms with a false discovery rate below 0.25 were located nearby the type XIII collagen COL13A1 gene on chromosome 10 and in the ADAMTS18 gene on chromosome 16. Several relevant genes were identified by the genome wide association study for their potential role in the sagging eyelid severity.     

Photodynamic therapy in Argentina

The use of endogenous Protoporphyrin IX generated through the heme biosynthetic pathway after administration of 5-aminolevulinic acid (ALA) has led to many applications in photodynamic therapy (PDT). In Buenos Aires, Argentina, the Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), reported for the first time, in 1975, porphyrin synthesis from ALA in highly dividing plant tissues. Increased porphyrin synthesis in tumours as well as cell photosensitisation was reported soon after. Our group is also interested in studying the use of new synthetic lipophilic derivatives of ALA as well as ALA delivery in liposomes. We have elucidated the mechanism of ALA transport in mammalian and yeast cells. The interactions between ALA-PDT and nitric oxide were investigated in three murine adenocarcinoma cell lines. In the National University of Río Cuarto, Córdoba, a group is devoted to the synthesis of new porphyrin-derived photosensitisers to study their effects on photoinactivation of bacterial and mammalian cells death by PDT. At the Centre of Electron Microscopy of the Cordoba National University, a prototype of a 630 nm noncoherent light source was designed and constructed. Cost of the light source and scarce knowledge of the benefits of PDT by physicians limit the spread of the treatment throughout the country.     

Plasma thymulin and nerve growth factor levels in patients with primary open angle glaucoma and elevated intraocular pressure

Background The objective was to measure the plasma concentrations of thymulin and nerve growth factor (NGF) in a group of patients with primary open angle glaucoma (POAG) and compare them with age- and sex-matched normal controls.Methods Twenty-eight patients newly diagnosed with POAG who were not undergoing treatment were compared with the same number of age- and sex-matched healthy controls. Blood samples were drawn into heparinized tubes and plasma samples were collected for the determination of the concentrations of thymulin and NGF, using specific enzyme-linked immunosorbent assay (ELISA). The Student’s t test was used to perform the necessary statistical analysis of the results.Results Seventeen women and 11 men were enrolled in each of the two groups (study and control), with a mean age of 63.7 (SD 10.3) years in the former and 63.3 (SD 9.6) years in the latter. There was a highly significant (p<0.001) elevation in the thymulin levels in POAG patients compared with the control group. However, no significant difference was observed when comparing the plasma NGF levels.Conclusion This is the first report to measure plasma thymulin levels in glaucoma patients. The significant results point the possible role of this immunomodulator in the pathogenesis of primary open angle glaucoma. The potential role of NGF seems to be less likely. These findings warrant further investigation.     

Female pelvic floor. Descriptive anatomy and clinical exploration by transvaginal ultrasound

In order to assess the state and pathology of the woman's pelvis minor, a number of methods are commonly used among practitioners, encompassing clinical exploration, radiology, MRN, urodynamics, endoscopy and echography.

Echography has been poorly used in clinical pelvic exploration and its reliability is actually a matter of controversy 1. However, echographic surveys can provide us with valuable gynecological data on the state and pathologies of the soft pelvis, within the genital regions or even going beyond them, i.e. the rectal channel, bladder, urethra, anus, vascular plexuses, and all of their supporting tissues.

At our research unit, we have been employing Transvaginal Ultrasound echography (TVU) for a long time in conjunction with other pelvis-focused methods in order to study different kinds of pelvic alterations. TVU has proven to be friendly to use, fast, harmless and inexpensive, allowing serial explorations and producing high-quality dynamic images (loop-cinema, video-tape). Furthermore, this method is fairly aseptic in that the occurrence of faeces in the rectal ampolla is not a nuisance but a bonus in tracking the contours of the rectum walls and other topographical features which would be otherwise difficult to survey.

A complete pelvic floor TVU may add no longer than 5-8 minutes to a routine gynecological examination, can be implemented by the general gynecologist and generates data that can be further studied by the appropriate specialist for a more insightful evaluation 2.     

A simple tool to evoke physicians' real training needs.

Commonly used methods for identifying the training needs of general practitioners do not enable the real needs felt during interviews with patients during office visits to be detected. In this study, the authors evaluate how physicians' use of a personal-office-visit diary affects the level of specificity of their expressed training needs. In 1999, the authors carried out a controlled intervention trial using a random sample of 1,038 general practitioners from a region of France, randomized to intervention and control groups. The practitioners in the intervention group were asked to identify their training needs using a personal-office-visit diary. The level of specificity for their expressed needs was compared with that of the expressed needs of the practitioners in the control group. The use of the diary was associated with a significantly higher level of specificity in the training needs identified by the general practitioners who participated. Independent of the intervention, practitioners under 40 years of age, those in urban practice, and those who were members of a continuing medical education (CME) association expressed their training needs with higher specificity. The personal-office-visit diary would seem to be a simple, inexpensive, and useful tool for more specifically identifying training needs, which could help establish more appropriate and better-targeted training programs. However, it should be assessed further by those involved in CME for general practitioners.     

Long-term Effects of Botulinum Toxin on Neuromuscular Function

Background: Recent reports indicate increased incidence of Clostridium botulinum infections, particularly among drug abusers and tissue allograft recipients. Botulinum toxin also has potential application in biochemical warfare. The neurotoxin-induced paralysis often requires mechanical ventilation with and without muscle relaxants. The authors investigated the long-term effects of botulinum toxin on muscle function, expression of nicotinic acetylcholine receptors (nAChRs), and their interaction with muscle relaxant, atracurium.

Methods: Rats (n = 30) were injected with varying doses (0.625, 2.5, and 10 U) of botulinum toxin into the tibialis muscle. Control animals (n = 9) received an equivalent volume of saline. At 128 days after injection, neuromuscular function, pharmacodynamics of atracurium, and nAChRs were evaluated.

Results: Nerve-evoked tensions, including tetanic tension and muscle mass, were decreased on the toxin-injected side in a dose-dependent manner relative to saline-injected controls as well as the contralateral side. Specific muscle tension and specific tetanic muscle tension (tensions/muscle mass) were not reduced. The ED10 of atracurium was reduced, the ED50 was unchanged, and the ED90 was increased in the highest (10-U) dose of toxin group. The atracurium plasma concentration to maintain a steady state 50% paralysis was significantly reduced in the 10-U toxin group. The nAChR concentrations in the tibialis muscle were significantly increased in a dose-dependent manner in all experimental groups.