Voluntary Inhibitory Control of Chorea: A Case Series.

Background: Volitional control of involuntary movements has so far been considered a hallmark of tic disorders. However, modulation of involuntary movements can also be observed in other hyperkinesias.

Cases: Here, we present 6 patients with chorea able to suppress their involuntary movements, on demand.

Stimulus Sensitive Foot Myoclonus: A Clue to Coeliac Disease.

Background: Coeliac disease (CD) is an autoimmune enteropathy that may feature extraintestinal manifestations including cerebellar ataxia and myoclonus.

Methods And Results: A descriptive series of five patients with CD who presented with prominent stimulus-sensitive foot myoclonus.

Conclusions: Stimulus-sensitive foot myoclonus is a distinct clinical sign and may be a useful clue to the diagnosis of CD.

Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease.

Background: mutations cause a wide clinical spectrum, and are one of the "commoner rare diseases".

Methods: Case series of four patients with mutations.

Results: The patients displayed characteristic episodes of dystonic arm posturing, involving a dystonic, flexed arm held in front of the body or close to the body, but with the hand raised upwards.

Murine Liver Organoids as a Genetically Flexible System to Study Liver Cancer and .

The rising incidence of cholangiocarcinoma (CCA) coupled with a low 5-year survival rate that remains below 10% delineates the urgent need for more effective treatment strategies. Although several recent studies provided detailed information on the genetic landscape of this fatal malignancy, versatile model systems to functionally dissect the immediate clinical relevance of the identified genetic alterations are still missing. To enhance our understanding of CCA pathophysiology and facilitate rapid functional annotation of putative CCA driver and tumor maintenance genes, we developed a tractable murine CCA model by combining the cyclization recombination (Cre)-lox system, RNA interference, and clustered regularly interspaced short palindromic repeats/CRISPR associated protein 9 (CRISPR/Cas9) technology with liver organoids, followed by subsequent transplantation into immunocompetent, syngeneic mice.

Brachial Neuritis After Botulinum Toxin Injections for Cervical Dystonia: A Need for a Reappraisal?

Background: Brachial neuritis has previously been described as a rare occurrence in patients receiving botulinum toxin for cervical or writing/focal arm dystonia.

Methods: We report four cases of patients with a long history of cervical dystonia treated with botulinum toxin injections.

Results: All patients developed pain and muscular weakness around the shoulder, with EMG studies suggesting brachial neuritis.

Novel challenges in spinal muscular atrophy - How to screen and whom to treat?

In recent years, disease-modifying and life-prolonging therapies for spinal muscular atrophy (SMA) have been developed. However, patients are currently diagnosed with significant delay and therapies are often administered in advanced stages of motor neuron degeneration, showing limited effects. Methods to identify children in presymptomatic stages are currently evaluated in newborn screening programs.

Ga-PSMA-11 PET/CT in prostate cancer local recurrence: impact of early images and parametric analysis.

Ga-PSMA-11 PET/CT performed 60 min post tracer injection (p.i.) can underestimate prostate cancer (PC) local recurrence, due to high Ga-PSMA-11 urinary bladder accumulation.

Limitations of Specific Coagulation Tests for Direct Oral Anticoagulants: A Critical Analysis.

Background During treatment with direct oral anticoagulants ( DOAC ), coagulation assessment is required before thrombolysis, surgery, and if anticoagulation reversal is evaluated. Limited data support the accuracy of DOAC -specific coagulation assays around the current safe-for-treatment threshold of 30 ng/ mL . Methods and Results In 481 samples obtained from 96 patients enrolled at a single center, DOAC concentrations were measured using Hemoclot direct thrombin inhibitor assay, Biophen direct thrombin inhibitor assay or ecarin clotting time for dabigatran, chromogenic anti-Xa assay ( AXA ) for factor Xa inhibitors (rivaroxaban, apixaban) and ultraperformance liquid chromatography-tandem mass spectrometry as reference.

Upregulation of C/EBPα contributes to colorectal cancer growth, metastasis and indicates poor survival outcome.

The function and clinical implication of transcription factor CCAAT/enhancer-binding protein α (C/EBPα) in colorectal cancer (CRC) still remains undefined. In fact, C/EBPα has long been considered as a tumor suppressor in hematopoietic system and also found lowly expressed in numerous solid tumors. However, our results here for the first time showed that C/EBPα was unexpectedly upregulated and was an independent prognostic marker for patients with CRC.

Food-related salience processing in healthy subjects during word recognition: Fronto-parietal network activation as revealed by independent component analysis.

Background: The study aimed to isolate and localize mutually independent cognitive processes evoked during a word recognition task involving food-related and food-neutral words using independent component analysis (ICA) for continuously recorded EEG data. Recognition memory (old/new effect) involves cognitive subcomponents-familiarity and recollection-which may be temporally and spatially dissociated in the brain. Food words may evoke additional attentional salience which may interact with the old/new effect.

Diabetes-Associated Biobanking: More Topical Than Ever?

The increasing prevalence of diabetes and its accompanying long-term complications, as well as the associated economic burden, calls for a rapid clinical translation of biomedical research to better valid the physiological relevance of the findings from basic research. To meet this condition, the Collaborative Research Center (CRC) 1118 has established the first nationwide diabetes-specific Biomaterialbank (BMB) that permanently preserves solid and liquid specimen retro- and prospectively at the Institute of Pathology and Department of Endocrinology of the University Hospital Heidelberg. The main purpose of this BMB is to collect, preserve, characterize and provide human diabetic specimen to researchers investigating the role of reactive metabolites (RM) as cause of diabetic late complications.

Clustering of Subgingival Microbiota Reveals Microbial Disease Ecotypes Associated with Clinical Stages of Periodontitis in a Cross-Sectional Study.

Periodontitis is characterized by chronic inflammation associated with alteration of the oral microbiota. In contrast to previous microbiome studies focusing on comparison between extreme phenotypes, our study analyzed a random sample of 85 people. The aim of this study was to link microbial differences to disease's prevalence and severity.

Neural Biomarkers for Dyslexia, ADHD, and ADD in the Auditory Cortex of Children.

Dyslexia, attention deficit hyperactivity disorder (ADHD), and attention deficit disorder (ADD) show distinct clinical profiles that may include auditory and language-related impairments. Currently, an objective brain-based diagnosis of these developmental disorders is still unavailable. We investigated the neuro-auditory systems of dyslexic, ADHD, ADD, and age-matched control children (N = 147) using neuroimaging, magnetencephalography and psychoacoustics.

Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.

-associated neurodegeneration comprises a heterogeneous spectrum of age-related phenotypes, with three forms classically recognized, including infantile neuroaxonal dystrophy (INAD) with onset in infancy, atypical neuroaxonal dystrophy (atypical NAD) with onset in childhood, and dystonia-parkinsonism (PARK14) with onset in early adulthood. We describe 3 cases that challenge this view, discuss the related literature, and suggest that mutations cause a phenotypic continuum rather than three discrete phenotypes, further ensuing clinical implications.

Reward-related decision making in eating and weight disorders: A systematic review and meta-analysis of the evidence from neuropsychological studies.

Eating disorders (EDs) and overweight/obesity (OW/OB) are serious public health concerns that share common neuropsychological features and patterns of disturbed eating. Reward-related decision making as a basic neurocognitive function may trans-diagnostically underlie both pathological overeating and restricted eating. The present meta-analysis synthesizes the evidence from N=82 neuropsychological studies for altered reward-related decision making in all ED subtypes, OW and OB.