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The risk ratio for development of hereditary sensorineural hearing loss in consanguineous marriage offspring.
Int J Pediatr Otorhinolaryngol. 2017 Oct;101:7-10
Authors: Sanyelbhaa H, Kabel A, Abo El-Naga HAE, Sanyelbhaa A, Salem H
Abstract
OBJECTIVES: This study aims to define the relative risk of development of hearing loss in offspring of consanguineous marriages.
MATERIALS AND METHODS: This is a retrospective case-control study conducted in a tertiary referral center in Jeddah, KSA. The study group included 1600 probands (848 males, 752 females), with age range 0.5-12 years (6.6 ± 3.6). The study group comprised of two equal, age and sex matched subgroups; Hearing Loss (HL) group and Normal Hearing (NH) group. The children included in the HL group should have idiopathic or non syndromic genetic sensorineural hearing loss.
RESULTS: The HL Group comprised 800 children with variable degrees of sensorineural hearing loss. Profound and severe degrees of hearing loss were the most prevalent degrees (P <0.05%). The prevalence of consanguineous marriage offspring in the NH group was 42.5%, while in the HL group it was 68.9% (P < 0.05). The differences between both study subgroups regarding the distribution of different degrees of parental consanguinity (first, second, double first, and first once removed cousins) were insignificant (P > 0.05). The relative risk and 95% confidence interval (RR, 95% CI) for development of hearing loss in offspring of consanguineous marriage was 1.76 (95% CI 1.57-1.97, P < 0.001).
CONCLUSIONS: There was 76% increased risk for consanguineous marriage progeny to develop SNHL when compared to non consanguineous progeny.
PMID: 28964313 [PubMed - indexed for MEDLINE]
Studying Mechanosensitivity of Two-Pore Domain K(+) Channels in Cellular and Reconstituted Proteoliposome Membranes.
Methods Mol Biol. 2018;1684:129-150
Authors: Del Mármol J, Rietmeijer RA, Brohawn SG
Abstract
Mechanical force sensation is fundamental to a wide breadth of biology from the classic senses of touch, pain, hearing, and balance to less conspicuous sensations of proprioception, blood pressure, and osmolarity and basic aspects of cell growth, differentiation, and development. These diverse and essential systems use force-gated (or mechanosensitive) ion channels that convert mechanical stimuli into cellular electrical signals. TRAAK, TREK1, and TREK2 are K(+)-selective ion channels of the two-pore domain K(+) (K2P) family that are mechanosensitive: they are gated open by increasing membrane tension. TRAAK and TREK channels are thought to play roles in somatosensory and other mechanosensory processes in neuronal and non-neuronal tissues. Here, we present protocols for three assays to study mechanical activation of these channels in cell membranes: (1) cell swelling, (2) cell poking, and (3) patched membrane stretching. Patched membrane stretching is also applicable to the study of mechanosensitive K2P channel activity in a cell-free system and a procedure for proteoliposome reconstitution and patching is also presented. These approaches are also readily applicable to the study of other mechanosensitive ion channels.
PMID: 29058189 [PubMed - in process]
Studying Mechanosensitivity of Two-Pore Domain K(+) Channels in Cellular and Reconstituted Proteoliposome Membranes.
Methods Mol Biol. 2018;1684:129-150
Authors: Del Mármol J, Rietmeijer RA, Brohawn SG
Abstract
Mechanical force sensation is fundamental to a wide breadth of biology from the classic senses of touch, pain, hearing, and balance to less conspicuous sensations of proprioception, blood pressure, and osmolarity and basic aspects of cell growth, differentiation, and development. These diverse and essential systems use force-gated (or mechanosensitive) ion channels that convert mechanical stimuli into cellular electrical signals. TRAAK, TREK1, and TREK2 are K(+)-selective ion channels of the two-pore domain K(+) (K2P) family that are mechanosensitive: they are gated open by increasing membrane tension. TRAAK and TREK channels are thought to play roles in somatosensory and other mechanosensory processes in neuronal and non-neuronal tissues. Here, we present protocols for three assays to study mechanical activation of these channels in cell membranes: (1) cell swelling, (2) cell poking, and (3) patched membrane stretching. Patched membrane stretching is also applicable to the study of mechanosensitive K2P channel activity in a cell-free system and a procedure for proteoliposome reconstitution and patching is also presented. These approaches are also readily applicable to the study of other mechanosensitive ion channels.
PMID: 29058189 [PubMed - in process]