Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness

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Therapeutic Hotline: Topical glycopyrrolate: a successful treatment for craniofacial hyperhidrosis and eccrine hidrocystomas

Eccrine hidrocystoma is a benign tumor derived from eccrine sudoriparous glands. Most eccrine hidrocystomas are solitary and asymptomatic lesions. Multiple hidrocystomas are unusual and have been associated with Graves' disease, Parkinson's disease, and idiopathic craniofacial hyperhidrosis.
This report describes the successful treatment of multiple center facial eccrine hidrocystomas associated with craniofacial hyperhidrosis with 0.5% glycopyrrolate aqueous solution applied locally for 1 week. The present authors obtained a very significant improvement without leaving any trace of clinical examination.
Multiple eccrine hidrocystomas are a rare condition and, to date, no effective treatment has been reported. Topical glycopyrrolate is a very good first-line treatment option.     

Postburn sequelae in the pediatric patient: clinical presentations and treatment options

Each year, more and more children acquire burns that require serious medical attention. A vast number of these burns lead to permanent disfigurement and long-term disability. As health care providers, focus should not only be on the immediate treatment, but also on the long-term outcome of these burns and the required rehabilitation that these burn patients must go through. During the rehabilitation phase of the burn, focus should be placed on how to prevent and treat several sequelae that include hypertrophic scarring, keloids, contractures, heterotopic ossification, leukoderma, and pruritus. One must also use a multidisciplinary team approach to help reintegrate the patient back into their environment.     

Differential Micro RNA Expression in PBMC from Multiple Sclerosis Patients

Differences in gene expression patterns have been documented not only in Multiple Sclerosis patients versus healthy controls but also in the relapse of the disease. Recently a new gene expression modulator has been identified: the microRNA or miRNA. The aim of this work is to analyze the possible role of miRNAs in multiple sclerosis, focusing on the relapse stage. We have analyzed the expression patterns of 364 miRNAs in PBMC obtained from multiple sclerosis patients in relapse status, in remission status and healthy controls. The expression patterns of the miRNAs with significantly different expression were validated in an independent set of samples. In order to determine the effect of the miRNAs, the expression of some predicted target genes of these were studied by qPCR. Gene interaction networks were constructed in order to obtain a co-expression and multivariate view of the experimental data. The data analysis and later validation reveal that two miRNAs (hsa-miR-18b and hsa-miR-599) may be relevant at the time of relapse and that another miRNA (hsa-miR-96) may be involved in remission. The genes targeted by hsa-miR-96 are involved in immunological pathways as Interleukin signaling and in other pathways as wnt signaling. This work highlights the importance of miRNA expression in the molecular mechanisms implicated in the disease. Moreover, the proposed involvement of these small molecules in multiple sclerosis opens up a new therapeutic approach to explore and highlight some candidate biomarker targets in MS.     

Polyunsaturated fatty acids and risk of melanoma: A Mendelian randomisation analysis

Melanoma is the deadliest form of skin cancer, mainly affecting populations of European ancestry. Some observational studies suggest that particular diets reduce melanoma risk, putatively through an increase in polyunsaturated fatty acid (PUFA) consumption. However, interpretation of these observational findings is difficult due to residual confounding or reverse causality. To date, a randomized controlled trial has not been carried out to examine the relationship between PUFAs and melanoma. Hence, we performed a Mendelian randomisation (MR) study to evaluate the link between PUFAs and melanoma. To perform MR, we used summary results from the largest risk genome‐wide association study (GWAS) meta‐analysis of melanoma, consisting of 12,874 cases and 23,203 controls. As instrumental variables we selected SNPs associated with PUFA levels from a GWAS meta‐analysis of PUFA levels, from the CHARGE consortium. We used the inverse variance weighted method to estimate a causal odds ratio. To aid interpretation, we established a benchmark “large” predicted change in PUFAs in which, for example, an increase in docosahexaenoic acid (DPA) of 0.17 units (equal to 1 standard deviation) moves a person from the 17^th percentile to the median. Raising PUFA levels by a large amount (increasing DPA by 0.17 units) only negligibly changed melanoma risk: odds ratio [OR] = 1.03 (95% confidence interval [CI] = 0.96–1.10). Other PUFAs yielded similar results as DPA. Our MR analysis suggests that the effect of PUFA levels on melanoma risk is either zero or very small.     

Eficacia de efalizumab a corto y largo plazo

T cells play an important role in the immune system and in the inflammatory response that determines the development and maintenance of psoriasis plaques. Better understanding of the pathophysiology of this disease has led to the development of specific biological treatments aimed at patients with extensive psoriasis. Traditionally, psoriasis has been treated with drugs which, in spite of their efficacy, have a toxicity associated to their long-term use. Thus, they cannot be used safely, comfortably or efficiently in many patients. Efalizumab, a biological agent specifically and selectively directed towards blocking the key steps in the pathogenesis of psoriasis, has been shown to be effective and safe in the short and long term in the treatment of psoriasis in more than 15 phase I, II and III clinical trials. In this article, the results of efficacy at 12 weeks, 6 months and three years are reviewed. Efalizumab arises as an important addition to the dermatological pharmacopoeia for the long-term treatment of psoriasis.     

Drainage of a ventral epidural atlantoaxial abscess via the transoral approach

We present a 28-year-old man with neck pain, fevers, elevated acute-phase reactant levels and progressive quadraparesis. He had a history of intravenous drug abuse. Contrast-enhanced cervical spine MRI revealed a heterogeneously enhancing mass in the anterior atlantoaxial region with spinal cord compression. The patient was taken emergently to the operating room for decompression. Although the transoral approach for access to the ventral atlantoaxial complex for resection of compressive inflammatory and neoplastic lesions is well described, reports of evacuation of infectious lesions via this route are limited. Thus, we report drainage of a ventral high cervical abscess via the transoral approach.     

Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration

Serum C-reactive protein (CRP), an important inflammatory marker, has been associated with age-related macular degeneration (AMD) in observational studies; however, the findings are inconsistent. It remains unclear whether the association between circulating CRP levels and AMD is causal. We used two-sample Mendelian randomization (MR) to evaluate the potential causal relationship between serum CRP levels and AMD risk. We derived genetic instruments for serum CRP levels in 418,642 participants of European ancestry from UK Biobank, and then conducted a genome-wide association study for 12,711 advanced AMD cases and 14,590 controls of European descent from the International AMD Genomics Consortium. Genetic variants which predicted elevated serum CRP levels were associated with advanced AMD (odds ratio [OR] for per standard deviation increase in serum CRP levels: 1.31, 95% confidence interval [CI]: 1.19–1.44, P = 5.2 × 10−8). The OR for the increase in advanced AMD risk when moving from low (< 3 mg/L) to high (> 3 mg/L) CRP levels is 1.29 (95% CI: 1.17–1.41). Our results were unchanged in sensitivity analyses using MR models which make different modelling assumptions. Our findings were broadly similar across the different forms of AMD (intermediate AMD, choroidal neovascularization, and geographic atrophy). We used multivariable MR to adjust for the effects of other potential AMD risk factors including smoking, body mass index, blood pressure and cholesterol; this did not alter our findings. Our study provides strong genetic evidence that higher circulating CRP levels lead to increases in risk for all forms of AMD. These findings highlight the potential utility for using circulating CRP as a biomarker in future trials aimed at modulating AMD risk via systemic therapies.