An Explorative Note on Apraxia Tests.

Apraxia is stated independent of primary motor disorders. However, patient groups suffering from stroke or dementia can reveal motor impairments. In this study we examined the dependence of apraxia tests of imitation and pantomime on a latent motor component using a principal component analysis.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Biallelic PDE6C mutations are a known cause for rod monochromacy, better known as autosomal recessive achromatopsia (ACHM), and early-onset cone photoreceptor dysfunction. PDE6C encodes the catalytic α'-subunit of the cone photoreceptor phosphodiesterase, thereby constituting an essential part of the phototransduction cascade. Here, we present the results of a study comprising 176 genetically preselected patients who remained unsolved after Sanger sequencing of the most frequent genes accounting for ACHM, and were subsequently screened for exonic and splice site variants in PDE6C applying a targeted next generation sequencing approach.

Radiomic Machine Learning for Characterization of Prostate Lesions with MRI: Comparison to ADC Values.

Purpose To compare biparametric contrast-free radiomic machine learning (RML), mean apparent diffusion coefficient (ADC), and radiologist assessment for characterization of prostate lesions detected during prospective MRI interpretation. Materials and Methods This single-institution study included 316 men (mean age ± standard deviation, 64.0 years ± 7.

Usher Syndrome and Color Vision.

Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the results in relation to Usher type (USH1 and USH2), age and visual acuity.

Methods And Methods: The color vision of 220 genetically confirmed adult USH patients, aged 18-70 years, was analyzed with one of three methods: the Farnsworth D-15 Dichotomous test (D-15) along with the Lanthony desaturated 15 Hue tests (D-15d), the Roth 28-Hue test, or the Ishihara 14-plate test.

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.

Background: Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin gene cluster including deletions of the locus control region (LCR) and/or parts of the gene cluster. We aimed at investigating the clinical presentation, genetic cause and inheritance underlying a sporadic case of BCM.

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

Importance: Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause.

Objective: To report olfactory function and the retinal phenotype in patients with biallelic mutations in CNGB1, a gene coding for a signal transduction channel subunit expressed in rod photoreceptors and olfactory sensory neurons.

Design, Setting, And Participants: This case series was conducted from August 2015 through July 2017.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Purpose: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of photoreceptors and retinal pigment epithelium (RPE) cells.

Methods: The study group was composed of four groups of patients representing different Mendelian inheritance of the disease: autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XL), and autosomal recessive or X-linked recessive (AR/XL).

Cortical Paired Associative Stimulation Influences Response Inhibition: Cortico-cortical and Cortico-subcortical Networks.

Background: The ability to stop a suboptimal response is integral to decision making and is commonly impaired across psychiatric disorders. Cortical paired associative stimulation (cPAS) is a form of transcranial magnetic stimulation in which paired pulses can induce plasticity at cortical synapses. Here we used cPAS protocols to target cortico-cortical and cortico-subcortical networks by using different intervals between the paired pulses in an attempt to modify response inhibition.

Inhibitory Effects of Human Primary Intervertebral Disc Cells on Human Primary Osteoblasts in a Co-Culture System.

Spinal fusion is a common surgical procedure to address a range of spinal pathologies, like damaged or degenerated discs. After the removal of the intervertebral disc (IVD), a structural spacer is positioned followed by internal fixation, and fusion of the degenerated segment by natural bone growth. Due to their osteoinductive properties, bone morphogenetic proteins (BMP) are applied to promote spinal fusion.

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.

Multimodal imaging provides insights into phenotype and disease progression in inherited retinal disorders. Congenital achromatopsia (ACHM), a cone dysfunction syndrome, has been long considered a stable condition, but recent evidence suggests structural progression. With gene replacement strategies under development for ACHM, there is a critical need for imaging biomarkers to define progression patterns and follow therapy.

Correction to: The use of Data Envelopment Analysis (DEA) in healthcare with a focus on hospitals.

The original version of this article unfortunately contained errors. The first column of Tables 5 and 6 in the Appendix section should contain the year of publication instead of the reference number in brackets. The reference citations were then placed in the second column.

Step by Step: Kinematics of the Reciprocal Trail Making Task Predict Slowness of Activities of Daily Living Performance in Alzheimer's Disease.

Dementia impairs the ability to perform everyday activities. Reduced motor capacity and executive functions as well as loss of memory function and forms of apraxia and action disorganization syndrome can be reasons for such impairments. In this study, an analysis of the hand trajectories during the sequential movements in an adapted version of the trail making task, the reciprocal trail making task (RTMT), was used to predict performance in activities of daily living (ADL) of patients suffering from mild cognitive impairment and dementia.

Dissociable Effects of Subthalamic Stimulation in Obsessive Compulsive Disorder on Risky Reward and Loss Prospects.

Our daily decisions involve an element of risk, a behavioral process that is potentially modifiable. Here we assess the role of the associative-limbic subthalamic nucleus (STN) in obsessive compulsive disorder (OCD) testing on and off deep-brain stimulation (DBS) on anticipatory risk taking to obtain rewards and avoid losses. We assessed 12 OCD STN DBS in a randomized double-blind within-subject cross-over design.

A meta-analysis of synovial biomarkers in periprosthetic joint infection: Synovasure™ is less effective than the ELISA-based alpha-defensin test.

Purpose: (1) To determine the overall accuracy of synovial alpha-defensin, synovial C-reactive protein (sCRP), interleukin-6 (sIL-6), and leukocyte esterase (sLE) as diagnostic markers for periprosthetic joint infection (PJI) and (2) to independantly evaluate the accuracy of both the laboratory-based ELISA alpha-defensin test and the Synovasure™ alpha-defensin test kit.

Methods: An EMBASE and MEDLINE (PubMed) database search was performed using a set of professionally set search terms. Two independent reviewers rated eligible articles.

An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation.

The cyclic nucleotide-gated (CNG) channel - composed of CNGA3 and CNGB3 subunits - mediates the influx of cations in cone photoreceptors after light stimulation and thus is a key element in cone phototransduction. Mutations in CNGA3 and CNGB3 are associated with achromatopsia, a rare autosomal recessive retinal disorder. Here, we demonstrate that the presence of an early nonsense mutation in CNGA3 induces the usage of a downstream alternative translation initiation site giving rise to a short CNGA3 isoform.

The use of Data Envelopment Analysis (DEA) in healthcare with a focus on hospitals.

The healthcare sector in general and hospitals in particular represent a main application area for Data Envelopment Analysis (DEA). This paper reviews 262 papers of DEA applications in healthcare with special focus on hospitals and therefore closes a gap of over ten years that were not covered by existing review articles. Apart from providing descriptive statistics of the papers, we are the first to examine the research purposes of the publications.

Progress and challenges in deep brain stimulation for obsessive-compulsive disorder.

This narrative review summarizes the recent literature on deep brain stimulation for treatment resistant obsessive-compulsive disorder highlighting both progress and challenges of this novel treatment. Common targets of psychiatric deep brain stimulation involve both white matter trajectories (anterior limb of the internal capsule, inferior thalamic peduncle, and medial forebrain bundle) and grey matter subcortical nuclei (nucleus accumbens, nucleus subthalamicus, and bed nucleus of the stria terminalis) each of which have been reported with a relevant beneficial effect on obsessive-compulsive symptoms. The mechanisms of action are only partially understood but increasing evidence points towards network effects involving the prefrontal cortex, the striatum and possibly anxiety-related anatomical structures.

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be explained by mutations in these 40 genes.

Separation of brown carbon from black carbon for IMPROVE and Chemical Speciation Network PM samples.

Unlabelled: The replacement of the Desert Research Institute (DRI) model 2001 with model 2015 thermal/optical analyzers (TOAs) results in continuity of the long-term organic carbon (OC) and elemental carbon (EC) database, and it adds optical information with no additional carbon analysis effort. The value of multiwavelength light attenuation is that light absorption due to black carbon (BC) can be separated from that of brown carbon (BrC), with subsequent attribution to known sources such as biomass burning and secondary organic aerosols. There is evidence of filter loading effects for the 25% of all samples with the highest EC concentrations based on the ratio of light attenuation to EC.