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Das 8. Herbsttreffen Patholinguistik mit dem Schwerpunktthema "Besonders behandeln? Sprachtherapie im Rahmen primärer Störungsbilder" fand am 15.11.2014 in Potsdam statt. Das Herbsttreffen wird seit 2007 jährlich vom Verband für Patholinguistik e.V. (vpl) durchgeführt.
Der vorliegende Tagungsband beinhaltet die vier Hauptvorträge zum Schwerpunktthema, die vier Kurzvorträge aus dem Spektrum Patholinguisitk sowie die Beiträge der Posterpräsentationen zu weiteren Themen aus der sprachtherapeutischen Forschung und Praxis.
Objective: Tracheotomized patients often suffer from impairments in mucociliary clearance and limited capacities for active expectoration of secretions. We investigated the effects of a specific respiratory intervention method (bagging) for tracheotomized patients on respiratory parameters (pO(2), pCO(2), SpO(2), respiratory rates), swallowing frequency, vigilance and secretion viscosity. Methods: The bagging method supports enforced mobilization and expectoration of secretions by application of a series of manual hyperinflations with a resuscitation bag during active inspiration and manual cough support on the chest. 30 tracheotomized neurological patients participated in a multiple-baseline study including a three-weeks intervention period and a follow-up measurement three weeks after termination of the treatment. Results: Most outcome parameters improved significantly during the intervention period: pO(2) (p<.01), SpO(2) (p<.01), respiratory rates (p<.01), swallowing rates (p<.01), and vigilance scores (p<.01). The quality of bronchial secretions improved in all participants. All effects were sustained up to the follow-up measurements. Conclusion: This preliminary data indicates positive effects for a respiratory intervention method (bagging) on respiratory function and additional respiration-related functions in tracheotomized neurological patients. This easy-to-learn and inexpensive method might expand the range of treatment options for tracheotomized and non-responsive patients.
A novel common variant in DCST2 is associated with length in early life and height in adulthood
(2015)
Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 x 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; beta = 0.046, SE = 0.008, P = 2.46 x 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 x 10(-4)) and adult height (N = 127 513; P = 1.45 x 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.