Obstructive Sleep Apnea Syndrome: From Phenotype to Genetic Basis

Obstructive sleep apnea syndrome (OSAS) is a complex chronic clinical syndrome, characterized by snoring, periodic apnea, hypoxemia during sleep, and daytime hypersomnolence. It affects 4-5% of the general population. Racial studies and chromosomal mapping, familial studies and twin studies have provided evidence for the possible link between the OSAS and genetic factors and also most of the risk factors involved in the pathogenesis of OSAS are largely genetically determined. A percentage of 35-40% of its variance can be attributed to genetic factors. It is likely that genetic factors associated with craniofacial structure, body fat distribution and neural control of the upper airway muscles interact to produce the OSAS phenotype. Although the role of specific genes that influence the development of OSAS has not yet been identified, current researches, especially in animal model, suggest that several genetic systems may be important. In this chapter, we will first define the OSAS phenotype, the pathogenesis and the risk factors involved in the OSAS that may be inherited, then, we will review the current progress in the genetics of OSAS and suggest a few future perspectives in the development of therapeutic agents for this complex disease entity

Idiopathic sensorineural hearing loss is associated with endothelial dysfunction

Hearing impairment is the most prevalent sensory deficit [1]. Sensorineural hearing loss (SNHL) is the most common type of permanent hearing loss and it occurswhen there is damage to the inner ear (cochlea), or to the nerve pathways fromthe inner ear to the brain.Most of the time, SNHL cannot be medically or surgically corrected. SNHL can result from genetic, environmental, or combined etiologies that prevent normal function of hearing, but, despite detailed investigation, the main cause remains usually unknown. Clinical and experimental studies have shown that ischemia contributes to several SNHL [2], suchas sudden sensoneural hearing loss, presbyacusis and noise-induced hearing loss. All of these SNHL can be related to alteration in blood flow [3]. The aim of the study is finding a relationship between idiopathic SNHL and endothelial dysfunction

Ceramic Water Filter for Point-Of-Use Water Treatment in Developing Countries: Principles, Challenges and Opportunities

Drinking water source contamination poses a great threat to human health in developing countries. Point-of-use (POU) water treatment techniques, which improve drinking water quality at the household level, offer an affordable and convenient way to obtain safe drinking water and thus can reduce the outbreaks of waterborne diseases. Ceramic water filters (CWFs), fabricated from locally sourced materials and manufactured by local labor, are one of the most socially acceptable POU water treatment technologies because of their effectiveness, low-cost and ease of use. This review concisely summarizes the critical factors that influence the performance of CWFs, including (1) CWF manufacturing process (raw material selection, firing process, silver impregnation), and (2) source water quality. Then, an in-depth discussion is presented with emphasis on key research efforts to address two major challenges of conventional CWFs, including (1) simultaneous increase of filter flow rate and bacterial removal efficiency, and (2) removal of various concerning pollutants, such as viruses and metal(loid)s. To promote the application of CWFs, future research directions can focus on: (1) investigation of pore size distribution and pore structure to achieve higher flow rates and effective pathogen removal by elucidating pathogen transport in porous ceramic and adjusting manufacture parameters; and (2) exploration of new surface modification approaches with enhanced interaction between a variety of contaminants and ceramic surfaces

Mammalian Otolin: A Multimeric Glycoprotein Specific to the Inner Ear that Interacts with Otoconial Matrix Protein Otoconin-90 and Cerebellin-1

The mammalian otoconial membrane is a dense extracellular matrix containing bio-mineralized otoconia. This structure provides the mechanical stimulus necessary for hair cells of the vestibular maculae to respond to linear accelerations and gravity. In teleosts, Otolin is required for the proper anchoring of otolith crystals to the sensory maculae. Otoconia detachment and subsequent entrapment in the semicircular canals can result in benign paroxysmal positional vertigo (BPPV), a common form of vertigo for which the molecular basis is unknown. Several cDNAs encoding protein components of the mammalian otoconia and otoconial membrane have recently been identified, and mutations in these genes result in abnormal otoconia formation and balance deficits.Here we describe the cloning and characterization of mammalian Otolin, a protein constituent of otoconia and the otoconial membrane. Otolin is a secreted glycoprotein of ∼70 kDa, with a C-terminal globular domain that is homologous to the immune complement C1q, and contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Like all C1q/TNF family members, Otolin multimerizes into higher order oligomeric complexes. The expression of otolin mRNA is restricted to the inner ear, and immunohistochemical analysis identified Otolin protein in support cells of the vestibular maculae and semi-circular canal cristae. Additionally, Otolin forms protein complexes with Cerebellin-1 and Otoconin-90, two protein constituents of the otoconia, when expressed in vitro. Otolin was also found in subsets of support cells and non-sensory cells of the cochlea, suggesting that Otolin is also a component of the tectorial membrane.Given the importance of Otolin in lower organisms, the molecular cloning and biochemical characterization of the mammalian Otolin protein may lead to a better understanding of otoconial development and vestibular dysfunction

High-pressure physiological saline isotonic solution administration enhances brain NGF and NGF-receptors expression

Nerve growth factor (NGF) is a neurotrophin which promotes and regulates the survival of neurons in the peripheral nervous system. The aim of this study was to investigate the effect of high-pressure administration of sterile physiological saline isotonic solution (HpPSIS) into nasal cavity of laboratory animals on NGF levels and NGF-receptor expression in the olfactory bulbs and brain.Sin financiación1.575 JCR (2015) Q3, 186/253 Pharmacology & pharmacyUE

Subjective tinnitus, temporomandibular joint dysfunction, and serotonin modulation of neural plasticity: causal or casual triad?

Tinnitus and temporomandibular joint dysfunction (TMJD) are among the most common complaints encountered by physicians. Though the relationship between tinnitus and TMJD has attracted great interest during the past several years, theories attempting to explain this association are still few and inconsistent. Conceivably, TMJD could irritate auricolo-temporal nerve (ATN), triggering a somatosensory pathway-induced disinhibition of dorsal cochlear nucleus (DCN) activity in the auditory pathway. In genetically-predisposed TMJD patients, signals from cronically stimulated DCNs activating specific cortical neuronal networks, could yield plastic neural changes resulting in tinnitus. Based on current evidence of serotoninergic modulation of neural activity and plasticity in sensory pathways, reduced serotoninergic tone could promote plastic changes underlying tinnitus through diminished filtering of incoming signals. Therefore, the early establishment of specific treatments aimed at improving TMJD and/or boosting serotoninergic activity may be required to prevent the creation of 'tinnitus memory circuits'