Molecular aging of the mammalian vestibular system.

Molecular aging of the mammalian vestibular system.

Ageing Res Rev. 2015 Dec 28;

Authors: Brosel S, Laub C, Averdam A, Bender A, Elstner M

Abstract
Dizziness and imbalance frequently affect the elderly and contribute to falls and frailty. In many geriatric patients, clinical testing uncovers a dysfunction of the vestibular system, but no specific etiology can be identified. Neuropathological studies have demonstrated age-related degeneration of peripheral and central vestibular neurons, but the molecular mechanisms are poorly understood. In contrast, recent studies into age-related hearing loss strongly implicate mitochondrial dysfunction, oxidative stress and apoptotic cell death of cochlear hair cells. While some data suggest that analogous biological pathomechanisms may underlie vestibular dysfunction, actual proof is missing. In this review, we summarize the available data on the molecular causes of vestibular dysfunction.

PMID: 26739358 [PubMed - as supplied by publisher]

from #Audiology via ola Kala on Inoreader http://ift.tt/1IUeY4A
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1ZahGVo
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1UBVvWW
via IFTTT

Molecular aging of the mammalian vestibular system.

Molecular aging of the mammalian vestibular system.

Ageing Res Rev. 2015 Dec 28;

Authors: Brosel S, Laub C, Averdam A, Bender A, Elstner M

Abstract
Dizziness and imbalance frequently affect the elderly and contribute to falls and frailty. In many geriatric patients, clinical testing uncovers a dysfunction of the vestibular system, but no specific etiology can be identified. Neuropathological studies have demonstrated age-related degeneration of peripheral and central vestibular neurons, but the molecular mechanisms are poorly understood. In contrast, recent studies into age-related hearing loss strongly implicate mitochondrial dysfunction, oxidative stress and apoptotic cell death of cochlear hair cells. While some data suggest that analogous biological pathomechanisms may underlie vestibular dysfunction, actual proof is missing. In this review, we summarize the available data on the molecular causes of vestibular dysfunction.

PMID: 26739358 [PubMed - as supplied by publisher]

from #Audiology via ola Kala on Inoreader http://ift.tt/1IUeY4A
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1S89RAj
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1RoeE0J
via IFTTT

A marker placement laser device for improving repeatability in 3D-foot motion analysis

Publication date: February 2016
Source:Gait & Posture, Volume 44
Author(s): Eva Kalkum, Stefan van Drongelen, Johannes Mussler, Sebastian I. Wolf, Benita Kuni
BackgroundIn 3D gait analysis, the repeated positioning of markers is associated with a high error rate, particularly when using a complex foot model with many markers. Therefore, a marker placement laser device was developed that ensures a reliable repositioning of markers. We report the development and reliability of this device for the foot at different tape conditions.MethodsIn 38 subjects, markers were placed at the foot according to the Heidelberg foot measurement method. Subjects were tested barefoot and barefoot with three different tape conditions. For all conditions, a static standing trial was captured. We analyzed differences in distances between markers and the intra-class correlation coefficients (ICC).ResultsSmall differences between the conditions (0.03–3.28mm) and excellent ICCs (0.91–0.97mm) were found for all parameters.ConclusionThe laser marker placement device appeared to be a reliable method to place markers on a tape at previously palpated positions and ensures an exact position. The device could find a wide application in different clinical research fields.



from #Audiology via ola Kala on Inoreader http://ift.tt/1JyCfce
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1ZahHIT
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1RoeGpr
via IFTTT

A marker placement laser device for improving repeatability in 3D-foot motion analysis

Publication date: February 2016
Source:Gait & Posture, Volume 44
Author(s): Eva Kalkum, Stefan van Drongelen, Johannes Mussler, Sebastian I. Wolf, Benita Kuni
BackgroundIn 3D gait analysis, the repeated positioning of markers is associated with a high error rate, particularly when using a complex foot model with many markers. Therefore, a marker placement laser device was developed that ensures a reliable repositioning of markers. We report the development and reliability of this device for the foot at different tape conditions.MethodsIn 38 subjects, markers were placed at the foot according to the Heidelberg foot measurement method. Subjects were tested barefoot and barefoot with three different tape conditions. For all conditions, a static standing trial was captured. We analyzed differences in distances between markers and the intra-class correlation coefficients (ICC).ResultsSmall differences between the conditions (0.03–3.28mm) and excellent ICCs (0.91–0.97mm) were found for all parameters.ConclusionThe laser marker placement device appeared to be a reliable method to place markers on a tape at previously palpated positions and ensures an exact position. The device could find a wide application in different clinical research fields.



from #Audiology via xlomafota13 on Inoreader http://ift.tt/1JyCfce
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1S89PIO
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1UBVulM
via IFTTT

A marker placement laser device for improving repeatability in 3D-foot motion analysis

Publication date: February 2016
Source:Gait & Posture, Volume 44
Author(s): Eva Kalkum, Stefan van Drongelen, Johannes Mussler, Sebastian I. Wolf, Benita Kuni
BackgroundIn 3D gait analysis, the repeated positioning of markers is associated with a high error rate, particularly when using a complex foot model with many markers. Therefore, a marker placement laser device was developed that ensures a reliable repositioning of markers. We report the development and reliability of this device for the foot at different tape conditions.MethodsIn 38 subjects, markers were placed at the foot according to the Heidelberg foot measurement method. Subjects were tested barefoot and barefoot with three different tape conditions. For all conditions, a static standing trial was captured. We analyzed differences in distances between markers and the intra-class correlation coefficients (ICC).ResultsSmall differences between the conditions (0.03–3.28mm) and excellent ICCs (0.91–0.97mm) were found for all parameters.ConclusionThe laser marker placement device appeared to be a reliable method to place markers on a tape at previously palpated positions and ensures an exact position. The device could find a wide application in different clinical research fields.



from #Audiology via ola Kala on Inoreader http://ift.tt/1JyCfce
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1ZahHIP
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1UBVvWQ
via IFTTT

POGZ truncating alleles cause syndromic intellectual disability.

POGZ truncating alleles cause syndromic intellectual disability.

Genome Med. 2016;8(1):3

Authors: White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR

Abstract
BACKGROUND: Large-scale cohort-based whole exome sequencing of individuals with neurodevelopmental disorders (NDDs) has identified numerous novel candidate disease genes; however, detailed phenotypic information is often lacking in such studies. De novo mutations in pogo transposable element with zinc finger domain (POGZ) have been identified in six independent and diverse cohorts of individuals with NDDs ranging from autism spectrum disorder to developmental delay.
METHODS: Whole exome sequencing was performed on five unrelated individuals. Sanger sequencing was used to validate variants and segregate mutations with the phenotype in available family members.
RESULTS: We identified heterozygous truncating mutations in POGZ in five unrelated individuals, which were confirmed to be de novo or not present in available parental samples. Careful review of the phenotypes revealed shared features that included developmental delay, intellectual disability, hypotonia, behavioral abnormalities, and similar facial characteristics. Variable features included short stature, microcephaly, strabismus and hearing loss.
CONCLUSIONS: While POGZ has been associated with neurodevelopmental disorders in large cohort studies, our data suggest that loss of function variants in POGZ lead to an identifiable syndrome of NDD with specific phenotypic traits. This study exemplifies the era of human reverse clinical genomics ushered in by large disease-directed cohort studies; first defining a new syndrome molecularly and, only subsequently, phenotypically.

PMID: 26739615 [PubMed - in process]

from #Audiology via xlomafota13 on Inoreader http://ift.tt/1Ofbdn1
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1S89PIH
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1RoeG93
via IFTTT

Odds are good that risky gambling choices are influenced by a single brain connection

One person's risky bet is another's exciting opportunity.The difference between those outlooks comes down to more than just disposition: It turns out that people with a stronger connection…

from #Medicine-SfakianakisAlexandros via o.lakala70 on Inoreader http://ift.tt/1K236IF
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1TJlb3w
via IFTTT

from #Med Blogs by Alexandros G.Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/1RoeDKe
via IFTTT