Management and long-term outcome of partial glossectomy in 2 horses.

Records were reviewed for 2 horses with partial glossectomy, 1 traumatic and 1 elective. According to long-term follow-up by telephone, both horses had recovered well, experiencing only temporary difficulty while eating, and went on to be ridden successfully using mouth bits. Partial glossectomy, therefore, had a favorable prognosis in 2 performance horses.

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.

Epilepsy is a phenotypically and genetically highly heterogeneous disorder with >200 genes linked to inherited forms of the disease. To identify the underlying genetic cause in a patient with intractable seizures, optic atrophy, severe intellectual disability (ID), brain abnormalities, and muscular hypotonia, we performed exome sequencing in a 5-year-old girl and her unaffected parents. In the patient, we detected a novel, de novo missense mutation in the SCN2A (c.

Mutations in GNAL: a novel cause of craniocervical dystonia.

Importance: Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL-encoded protein (Gαolf) is important for dopamine D1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL in 461 patients from Germany, Serbia, and Japan, including 318 patients with dystonia (190 with cervical dystonia), 51 with hyposmia and Parkinson disease, and 92 with tardive dyskinesia or acute dystonic reactions.

An inherited magnetic map guides ocean navigation in juvenile Pacific salmon.

Migratory marine animals exploit resources in different oceanic regions at different life stages, but how they navigate to specific oceanic areas is poorly understood. A particular challenge is explaining how juvenile animals with no prior migratory experience are able to locate specific oceanic feeding habitats that are hundreds or thousands of kilometers from their natal sites. Although adults reproducing in the vicinity of favorable ocean currents can facilitate transport of their offspring to these habitats, variation in ocean circulation makes passive transport unreliable, and young animals probably take an active role in controlling their migratory trajectories.

Inappropriate crushing information on ward lists: cytotoxic drugs, capsules, and modified release formulations are gravely neglected.

Purpose: The aim of this study was to assess the quality of the information sources on the modification of solid medication dosage forms (crushing, suspending) used on the wards of a large university hospital in Germany.

Methods: We performed on-site visits of all 79 wards of the hospital and collected available sources of information on the modification of solid medication dosage forms. To evaluate the quality of such information, we gathered reference information for each listed brand from the respective pharmaceutical company, transferred this information to a knowledge base, and classified it into three categories, i.

Analyses of lipid rafts, Toll-like receptors 2 and 4, and cytokines in foals vaccinated with Virulence Associated Protein A/CpG oligonucleotide vaccine against Rhodococcus equi.

Rhodococcus equi establishes long-term pulmonary infection, survives in phagolysosomes of alveolar macrophages and causes pneumonia in foals. The failure of the foal to clear R. equi bacteria is believed to be due to its inability to produce IFN-γ and defects in Toll-like receptor(TLR) signaling.

Mutations in VPS26A are not a frequent cause of Parkinson's disease.

VPS35 mutations have been identified as a cause of autosomal dominantly inherited Parkinson's disease (PD). VPS35 interacts with VPS26A in the retromer complex that links mitochondrial and lysosomal pathways, which have both been shown to be dysfunctional in PD. Thus, mutations in VPS26A may be associated with PD.

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

Musician's dystonia (MD) affects 1% to 2% of professional musicians and frequently terminates performance careers. It is characterized by loss of voluntary motor control when playing the instrument. Little is known about genetic risk factors, although MD or writer's dystonia (WD) occurs in relatives of 20% of MD patients.

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

DYTCA is a syndrome that is characterized by predominant dystonia and mild cerebellar ataxia. We examined two affected siblings with healthy, consanguineous, Turkish parents. Both patients presented with a combination of childhood-onset cerebellar ataxia, dystonia, and sensory axonal neuropathy.

Failure of a VapA/CpG oligodeoxynucleotide vaccine to protect foals against experimental Rhocococcus equi pneumonia despite induction of VapA-specific antibody and interferon-γ response.

We evaluated the immunogenic and protective potential of a recombinant VapA/CpG oligodeoxynucleotide (ODN) 2395 vaccine in neonatal foals undergoing experimental Rhodococcus equi challenge. Foals (n = 8) were vaccinated by intramuscular injection on days 1 and 15 of the study; control foals (n = 7) received a phosphate-buffered saline (PBS) solution. All foals were challenged by intrabronchial administration of 5 × 10⁶ R.

Development of a standardized knowledge base to generate individualized medication plans automatically with drug administration recommendations.

Aims: We aimed to develop a generic knowledge base with drug administration recommendations which allows the generation of a dynamic and comprehensive medication plan and to evaluate its comprehensibility and potential benefit in a qualitative pilot study with patients and physicians.

Methods: Based on a literature search and previously published medication plans, a prototype was developed and iteratively refined through qualitative evaluation (interviews with patients and focus group discussions with physicians). To develop the recommendations for safe administration of specific drugs we screened the summary of product characteristics (SmPC) of different exemplary brands, allocated the generated advice to groups with brands potentially requiring the same advice, and reviewed these allocations regarding applicability and appropriateness of the recommendations.

Safeguarding the process of drug administration with an emphasis on electronic support tools.

Aims: The aim of this work is to understand the process of drug administration and identify points in the workflow that resulted in interventions by clinical information systems in order to improve patient safety.

Methods: To identify a generic way to structure the drug administration process we performed peer-group discussions and supplemented these discussions with a literature search for studies reporting errors in drug administration and strategies for their prevention.

Results: We concluded that the drug administration process might consist of up to 11 sub-steps, which can be grouped into the four sub-processes of preparation, personalization, application and follow-up.

Nonmotor and diagnostic findings in subjects with de novo Parkinson disease of the DeNoPa cohort.

Objective: To determine nonmotor signs (NMS) and evaluate the utility of several diagnostic tools in patients with de novo Parkinson disease (PD).

Methods: This is a large single-center study of the DeNoPa cohort, including frequency-matched healthy controls. This study covers motor signs, NMS, and a combination of diagnostic tests including olfactory testing, transcranial sonography of substantia nigra (TCS), and polysomnography (PSG).

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the leucine-rich repeat kinase 2 (LRRK2) gene was identified, with p.

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor β (PDGF-Rβ) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-Rβ.

Genetics of dystonia: what's known? What's new? What's next?

Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked phenotypic but also etiologic heterogeneity. Isolated dystonia can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25). Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18].

The acquisition of prosodic constraints on derivational morphology in typically developing children and children with SLI.

Aim of this study was to investigate at what age German children master prosodic and morphological constraints in the acquisition of the word formation paradigm -heit/-keit, which is comparable to English -ness, and whether children with Specific Language Impairment (SLI) have difficulties identifying the prosodic cues from the input. Derived words with -heit contain simple bases with final stress and those with -keit have complex bases with a weak final syllable. Three groups of typically developing children (four, six and eight years old) and 18 children with SLI (from 8 to 10 years) had to produce either -heit or -keit derivations in a sentence completion task.

Mortalin mutations are not a frequent cause of early-onset Parkinson disease.

Dysfunctional mitochondria and the mitochondrial chaperone mortalin (HSPA9, GRP75) have been implicated in the pathogenesis of Parkinson disease (PD). We screened 139 early-onset PD (EOPD) patients for mutations in mortalin revealing one missense change (p.L358P) that was absent in 279 control individuals.

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.

Importance: We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype.

Observations: Neurological and ophthalmological examination, including videotaping and fundoscopy, and genetic investigations, including homozygosity mapping and exome sequencing, were performed at the University of the Punjab and the University of Lübeck. Participants included 2 severely affected cousins from consanguineous parents, 10 of their reportedly unaffected relatives, and 342 Pakistani controls.

Consecutive gold(I)-catalyzed cyclization reactions of o-(buta-1,3-diyn-1-yl-)-substituted N-aryl ureas: a one-pot synthesis of pyrimido[1,6-a]indol-1(2H)-ones and related systems.

Treatment of readily available o-(buta-1,3-diyn-1-yl-)-substituted N-aryl ureas such as 1 with the Au(I)-catalyst 11 affords, via a twofold cyclization process, the isomeric pyrimido[1,6-a]indol-1(2H)-one 3 in good yield.

Terrestrial cooling in Northern Europe during the eocene-oligocene transition.

Geochemical and modeling studies suggest that the transition from the "greenhouse" state of the Late Eocene to the "icehouse" conditions of the Oligocene 34-33.5 Ma was triggered by a reduction of atmospheric pCO2 that enabled the rapid buildup of a permanent ice sheet on the Antarctic continent. Marine records show that the drop in pCO2 during this interval was accompanied by a significant decline in high-latitude sea surface and deep ocean temperature and enhanced seasonality in middle and high latitudes.

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

Objective: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.

Methods: Genome-wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow-up examination, including electrophysiological studies and magnetic resonance imaging scanning.

Evidence for geomagnetic imprinting as a homing mechanism in Pacific salmon.

In the final phase of their spawning migration, Pacific salmon use chemical cues to identify their home river, but how they navigate from the open ocean to the correct coastal area has remained enigmatic. To test the hypothesis that salmon imprint on the magnetic field that exists where they first enter the sea and later seek the same field upon return, we analyzed a 56-year fisheries data set on Fraser River sockeye salmon, which must detour around Vancouver Island to approach the river through either a northern or southern passageway. We found that the proportion of salmon using each route was predicted by geomagnetic field drift: the more the field at a passage entrance diverged from the field at the river mouth, the fewer fish used the passage.