Miracle-dz/UniFAR-FTUs huggingface dataset:
Sensory disinhibition on passive movement in cervical dystonia

The relevance of the sensory system in the pathophysiology of cervical dystonia (CD) has been discussed since the description of sensory tricks associated with this disorder. Our objective was to locate changes in somatosensory processing of patients with CD responding in a passive sensory task of body regions that are not affected by dystonic symptoms. We used functional magnetic resonance imaging (fMRI) in 17 patients with CD and 17 healthy controls performing a strictly passive 30‐degree forearm movement task with the left arm. TSUI and TWSTRS rating scales were used for clinical assessment. All patients were treated with botulinum neurotoxin type A (BoNT‐A; Dysport®). Patients with CD showed BOLD‐signal increase in the contralateral primary and secondary sensory cortex, the cingulate cortex and cerebellum bilaterally compared to healthy controls. We found a strong positive correlation of this activation with BoNT‐A dosage in the supplementary motor area (SMA) and a negative correlation with the TWSTRS in that same region. The observed sensory overactivation suggests a general disinhibition of the somatosensory system in CD as it was not limited to the motor‐system or the direct neuronal representation of the affected dystonic musculature alone. © 2010 Movement Disorder Society
Familial aggregation of Parkinson's disease in a multiethnic community‐based case‐control study

To assess the familial aggregation of Parkinson's disease (PD), we compared the cumulative incidence of PD among first‐degree relatives of PD cases and controls. We identified newly diagnosed patients with PD (n = 573) during 1994 to 1995 within Kaiser Permanente Medical Care Program of Northern California and recruited 496 cases (87%) for the case‐control study. Of 720 eligible controls matched by birth year and sex to cases, 541 (75%) agreed to participate. Information on family history of PD and other neurodegenerative diseases was obtained by in‐person structured interview. We used the reconstructed cohort approach that provides a better estimate of the risk. The cumulative incidence of PD was significantly higher among relatives of PD patients compared with relatives of controls (2.0 vs. 0.7%; relative risk (RR) = 3.4, 95% confidence interval (CI) 1.9–5.9; P = 0.0001). The degree of familial aggregation was higher among first‐degree relatives of Hispanic PD cases compared with Hispanic controls (3.7% vs. 0.4%; RR = 8.5, 95% CI 1.0–68.9) than it was among non‐Hispanic Caucasian cases and controls (2.0% vs. 0.8%; RR = 2.7, 95% CI 1.5–5.1; P = 0.02). The familial aggregation of PD was stronger among the siblings of PD cases (RR = 5.4, 95% CI 1.8–16.0) than among parents (RR = 2.7, 95% CI 1.3–5.2). The incidence and familial aggregation of PD is highest among Hispanics, warranting further studies of genetic and environmental risk factors in the Hispanic population. © 2010 Movement Disorder Society
Common variants in PARK loci and related genes and Parkinson's disease

Rare mutations in PARK loci genes cause Parkinson's disease (PD) in some families and isolated populations. We investigated the association of common variants in PARK loci and related genes with PD susceptibility and age at onset in an outbred population. A total of 1,103 PD cases from the upper Midwest, USA, were individually matched to unaffected siblings (n = 654) or unrelated controls (n = 449) from the same region. Using a sequencing approach in 25 cases and 25 controls, single nucleotide polymorphisms (SNPs) in species‐conserved regions of PARK loci and related genes were detected. We selected additional tag SNPs from the HapMap. We genotyped a total of 235 SNPs and two variable number tandem repeats in the ATP13A2, DJ1, LRRK1, LRRK2, MAPT, Omi/HtrA2, PARK2, PINK1, SNCA, SNCB, SNCG, SPR, and UCHL1 genes in all 2,206 subjects. Case‐control analyses were performed to study association with PD susceptibility, while cases‐only analyses were used to study association with age at onset. Only MAPT SNP rs2435200 was associated with PD susceptibility after correction for multiple testing (OR = 0.74, 95% CI = 0.64–0.86, uncorrected P < 0.0001, log additive model); however, 16 additional MAPT variants, seven SNCA variants, and one LRRK2, PARK2, and UCHL1 variants each had significant uncorrected P‐values. There were no significant associations for age at onset after correction for multiple testing. Our results confirm the association of MAPT and SNCA genes with PD susceptibility but show limited association of other PARK loci and related genes with PD. © 2010 Movement Disorder Society
Adsorption and Reduction of Heavy Metal Cr (VI) by Enterobacter cloacae SKD and Its Kinetics

Chromium contamination is one of the most common heavy metal pollutants. Degradation of highly toxic Cr(VI) by microbial remediation technology can open up a new way for environmentally friendly and efficient chromium pollution control. The adsorption and reduction kinetics of Cr(VI) by Enterobacter cloacae SKD were studied by the adsorption and reduction experiments of Cr(VI) by Enterobacter cloacae SKD. The mechanism of adsorption and reduction of Cr(VI) by Enterobacter cloacae SKD was revealed, and the characteristics of adsorption and reduction were determined. The results showed that the R2 value of the Langmuir model of chromium adsorption by Enterobacter cloacae SKD was 0.989, which was higher than the R2 value of the Freundlich model of 0.656, and the adsorption isotherm model was more consistent with the Langmuir model. Enterobacter cloacae SKD conformed to the second-order adsorption kinetic model, which indicated that the adsorption of Cr(VI) by Enterobacter cloacae was mainly chemical adsorption. The reduction kinetics of Cr(VI) is more in line with the second-order kinetic model. Through the study of the heavy metal chromium adsorption reduction mechanism, the theoretical basis was provided for the practical application of the late heavy metal chromium pollution organism restoration.
Musculoskeletal phenotype through the life course: the role of nutrition

This review considers the definition of a healthy bone phenotype through the life course and the modulating effects of muscle function and nutrition. In particular, it will emphasise that optimal bone strength (and how that is regulated) is more important than simple measures of bone mass. The forces imposed on bone by muscle loading are the primary determinants of musculoskeletal health. Any factor that changes muscle loading on the bone, or the response of bone to loading results in alterations of bone strength. Advances in technology have enhanced the understanding of a healthy bone phenotype in different skeletal compartments. Multiple components of muscle strength can also be quantified. The critical evaluation of emerging technologies for assessment of bone and muscle phenotype is vital. Populations with low and moderate/high daily Ca intakes and/or different vitamin D status illustrate the importance of nutrition in determining musculoskeletal phenotype. Changes in mass and architecture maintain strength despite low Ca intake or vitamin D status. There is a complex interaction between body fat and bone which, in addition to protein intake, is emerging as a key area of research. Muscle and bone should be considered as an integrative unit; the role of body fat requires definition. There remains a lack of longitudinal evidence to understand how nutrition and lifestyle define musculoskeletal health. In conclusion, a life-course approach is required to understand the definition of healthy skeletal phenotype in different populations and at different stages of life.
Fluorescent protein tracking and detection: fluorescent protein structure and color variants.

The rapidly growing arsenal of genetically encoded fluorescent proteins (FPs) obtained from sea creatures has launched and fueled a revolution in live cell imaging. The diverse array of applications benefiting from FPs ranges from markers targeted at organelles and protein fusions designed to monitor intracellular dynamics to reporters of transcriptional regulation and in vivo probes for whole-body imaging and detection of cancer. FPs have enabled the creation of highly specific biosensors to monitor a wide range of intracellular phenomena, including pH and metal-ion concentration, protein kinase activity, apoptosis, membrane voltage, cyclic nucleotide signaling, and tracing neuronal pathways. The purpose of this article is to provide a description of the wide variety of FPs that are currently available.
Balance Retraining: A Comprehensive Approach to Treatment of Patients With Dizziness and Imbalance

Reprint requests: Ms. Washko, Minneapolis Neuroscience Institute, Abbott Northwestern Hospital, 800 E. 28th Street, Minneapolis, Minnesota 55407. Management of those patients reporting dizziness and imbalance is a common dilemma for many professionals in the medical community. Previous intervention focused on isolating the diagnosis to the peripheral vestibular or central nervous (CNS) systems. Thus, treatment focused on vestibulosuppressant medication, surgery, or therapy emphasizing functional compensation. Current literature and medical practice rely on a dynamic systems model in the diagnosis and treatment of patients with dizziness and imbalance. Through stateof-the-art diagnostic equipment, the various systems involved in balance can be properly investigated both as isolated structures and as integrated units during functional tasks. Abnormalities within an individual system or improper integration by the CNS may cause dizziness or imbalance. Chronic or untreated balance dysfunction may additionally result in secondary inefficient compensation and immobility. Traditionally, exercise has played a role in the treatment of patients diagnosed with peripheral vestibular and CNS disorders, but without the benefit of an integrated approach. The theories and practice of Hallpike, Norre, and Cawthorne addressed the mechanical aspect of vestibular dysfunction while rationale for treatment of CNS disorders focused on structural dysfunction. This article presents an overview on assessment of the systems contributing to balance, normal and abnormal postural responses, and treatment of imbalance and dizziness. Exercise is presented as a powerful therapeutic option contributing to the total rehabilitation of these patients. The goal of balance rehabilitation is maximum independence and safety during daily activity, both occupational and recreational.
Comparison of Targeted vs Random Biopsies for Surveillance of Ulcerative Colitis-Associated Colorectal Cancer.

BACKGROUND & AIMS A random biopsy is recommended for surveillance of ulcerative colitis (UC)-associated colorectal cancer. However, a targeted biopsy might be more effective. We conducted a randomized controlled trial to compare rates of neoplasia detection by targeted vs random biopsies in patients with UC. METHODS We performed a study of 246 patients with UC for 7 years or more, seen at 52 institutions in Japan from October 1, 2008 through December 31, 2010. Patients were randomly assigned to the random group (4 random biopsies collected every 10 cm in addition to targeted biopsies, n = 122) or the target group (biopsies collected from locations of suspected neoplasia, n = 124). The primary end point was the number of neoplastic lesions detected in a single surveillance colonoscopy. We estimated the ratio and difference in the mean number of neoplastic lesions between the groups. We also evaluated the non-inferiority between the groups as an exploratory study. A non-inferiority margin of 0.65 (0.13 of 0.20) was considered for the ratio of the mean number of neoplastic lesions between groups. RESULTS The mean number of biopsies found to contain neoplastic tissue per colonoscopy was 0.211 (24 of 114) in the target group and 0.168 (18 of 107) in the random group (ratio of 1.251; 95% confidence interval, 0.679-2.306). The lower limit was above the non-inferiority margin of 0.65. Neoplasias were detected in 11.4% of patients in the target group and 9.3% of patients in the random group (P = .617). Larger numbers of biopsy samples per colonoscopy were collected in the random group (34.8 vs 3.1 in the target group; P < .001), and the total examination time was longer (41.7 vs 26.6 minutes in the target group; P < .001). In the random group, all neoplastic tissues found in random biopsies were collected from areas of the mucosa with a history or presence of inflammation. CONCLUSIONS In a randomized controlled trial, we found that targeted and random biopsies detect similar proportions of neoplasias. However, a targeted biopsy appears to be a more cost-effective method. Random biopsies from areas without any signs of present or past inflammation were not found to contain neoplastic tissues. Clinical Trial Registry: UMIN000001608.
Food additives and preschool children

Food additives have been used throughout history to perform specific functions in foods. A comprehensive framework of legislation is in place within Europe to control the use of additives in the food supply and ensure they pose no risk to human health. Further to this, exposure assessments are regularly carried out to monitor population intakes and verify that intakes are not above acceptable levels (acceptable daily intakes). Young children may have a higher dietary exposure to chemicals than adults due to a combination of rapid growth rates and distinct food intake patterns. For this reason, exposure assessments are particularly important in this age group. The paper will review the use of additives and exposure assessment methods and examine factors that affect dietary exposure by young children. One of the most widely investigated unfavourable health effects associated with food additive intake in preschool-aged children are suggested adverse behavioural effects. Research that has examined this relationship has reported a variety of responses, with many noting an increase in hyperactivity as reported by parents but not when assessed using objective examiners. This review has examined the experimental approaches used in such studies and suggests that efforts are needed to standardise objective methods of measuring behaviour in preschool children. Further to this, a more holistic approach to examining food additive intakes by preschool children is advisable, where overall exposure is considered rather than focusing solely on behavioural effects and possibly examining intakes of food additives other than food colours.
Deep brain stimulation for Gilles de la Tourette syndrome: A case series targeting subregions of the globus pallidus internus

Deep brain stimulation remains an experimental treatment for patients with Gilles de la Tourette syndrome. Currently, a major controversial issue is the choice of brain target that leads to optimal patient outcomes within a presumed network of basal ganglia and cortical pathways involved in tic pathogenesis. This report describes our experience with patients with severe refractory Gilles de la Tourette syndrome treated with globus pallidus internus deep brain stimulation. Five patients were selected for surgery, 2 targeting the posteroventral globus pallidus internus and 2 targeting the anteromedial region. The remaining patient was first targeted on the posterolateral region, but after 18 months the electrodes were relocated in the anteromedial area. Tics were clinically assessed in all patients pre‐ and postoperatively using the Modified Rush Video protocol and the Yale Global Tic Severity Scale. Obsessive‐compulsive behaviors were quantified with the Yale–Brown Obsessive Compulsive Scale. The Gilles de la Tourette Syndrome–Quality of Life Scale was also completed. All patients experienced improvements in tic severity but to variable extents. More convincing improvements were seen in patients with electrodes sited in the anteromedial region of the globus pallidus internus than in those with posterolateral implants. Mean reduction in the Modified Rush Video Rating scale for each group was 54% and 37%, respectively. Our open‐label limited experience supports the use of the anteromedial globus pallidus internus as a promising target for future planned randomized double‐blind trials of deep brain stimulation for patients with Gilles de la Tourette syndrome. © 2011 Movement Disorder Society
Conference on ‘ Childhood Nutrition and Obesity : Current Status and Future Challenges ’ Symposium 1 : Current Status Longitudinal follow-up of the relationship between dietary intake and growth and development in the Lifeways cross-generation cohort study 2001 – 2013

In this paper we will review evidence on the early life and familial influences on childhood growth and development, with particular reference to the Lifeways cross-generation cohort study in the Republic of Ireland. The Lifeways cross-generation cohort study was established in 2001–2013 through two maternity hospitals in the Republic of Ireland and was one of many new cohort studies established worldwide in the millennium period. Mothers were recruited at first booking visit, completing a self-administered questionnaire, which included a 147 item semi-quantitative FFQ. Longitudinal follow-up is ongoing in 2013, with linkage data to hospital and general practice records and examination of children when aged 5 and 9 years. The study is one of very few containing data on grandparents of both lineages with at least one grandparent recruited at baseline. There have been consistent associations between parental and grandparental health status characteristics and children’s outcomes, including infant birth-weight, BMI when child was aged 5 years and childhood wheeze or asthma when child was aged 3 and aged 5 years. In conclusion, empirical evidence to date shows consistent familial and cross-generational patterns, particularly in the maternal line.
Validation of the MDS‐UPDRS Part I for nonmotor symptoms in Parkinson's disease

The UPDRS has been the main outcome measure in studies of PD. Modifications have been made to improve scale properties and represent the breadth of manifestations of PD, particularly nonmotor symptoms (NMS), resulting in the Movement Disorder Society's revision of the UPDRS (MDS‐UPDRS). This study was undertaken to determine the validity of MDS‐UPDRS Part I (nonmotor experiences of daily living). The MDS‐UPDRS and a number of validated scales for the NMS in PD were used in 94 patients with PD from Hoehn and Yahr stage I to V. We assessed reliability, floor and ceiling effects, and correlations with validated scales for the nonmotor symptoms of PD. MDS‐UPDRS Part I showed high internal consistency (Cronbach's alpha: 0.85), small floor and ceiling effects (2% floor and 0% ceiling effect), and good concurrent validity (correlation with the original UPDRS Part I: r = 0.81, P < 0.001). The standardized z‐score of the MDS‐UPDRS Part I score demonstrated high convergent validity with the composite z‐score of nonmotor scales (r = 0.89, P < 0.0001), and the two subscores based on the original factor analysis of Part I also had high correlations with the composite z‐scores of corresponding nonmotor scales (depression, anxiety, apathy factor score: r = 0.72, P < 0.0001; other nonmotor features factor score: r = 0.87, P < 0.0001). Our data demonstrate that the MDS‐UPDRS Part I total score has a strong relationship with a composite score of validated scales for the nonmotor aspects of PD. © 2011 Movement Disorder Society
Changing to interleaving stimulation might improve dystonia in cases not responding to pallidal stimulation

A 24-year-old female teacher presented with fever, headache, and vomiting. Then an akinetic-rigid syndrome with tremor developed several days later. There was no family or personal history of movement disorders or other neurological or psychiatric diseases. Exposure to toxic substances or illicit drugs was denied. The cerebrospinal fluid (CSF) examination showed normal chlorine and glucose content, but there were 50 white blood cells per cubic millimetre and slightly elevated protein content. CSF culture did not grow any organisms. Immunoglobulin M (IgM) levels of antiEBV–viral capsid antigen (VCA) were remarkably increased in serum and CSF. IgG levels of anti-EBV-VCA were increased in serum but not detectable in CSF. Anti–EpsteinBarr nuclear antigen (EBNA) antibodies were not detectable in either serum or CSF. Magnetic resonance imaging (MRI) showed bilateral substantia nigra lesions on admission. After a 2-month treatment with Madopar, the patient recovered completely without any sequelae. Madopar was slowly tapered off and withdrawn. A repeated MRI after 3 months showed resolution of the lesions (Fig. 1).
Magnetic Resonance Elastography vs Transient Elastography in Detection of Fibrosis and Noninvasive Measurement of Steatosis in Patients With Biopsy-Proven Nonalcoholic Fatty Liver Disease.

BACKGROUND & AIMS Magnetic resonance imaging (MRI) techniques and ultrasound-based transient elastography (TE) can be used in noninvasive diagnosis of fibrosis and steatosis in patients with nonalcoholic fatty liver disease (NAFLD). We performed a prospective study to compare the performance of magnetic resonance elastography (MRE) vs TE for diagnosis of fibrosis, and MRI-based proton density fat fraction (MRI-PDFF) analysis vs TE-based controlled attenuation parameter (CAP) for diagnosis of steatosis in patients undergoing biopsy to assess NAFLD. METHODS We performed a cross-sectional study of 104 consecutive adults (56.7% female) who underwent MRE, TE, and liver biopsy analysis (using the histologic scoring system for NAFLD from the Nonalcoholic Steatohepatitis Clinical Research Network Scoring System) from October 2011 through May 2016 at a tertiary medical center. All patients received a standard clinical evaluation, including collection of history, anthropometric examination, and biochemical tests. The primary outcomes were fibrosis and steatosis. Secondary outcomes included dichotomized stages of fibrosis and nonalcoholic steatohepatitis vs no nonalcoholic steatohepatitis. Receiver operating characteristic curve analyses were used to compare performances of MRE vs TE in diagnosis of fibrosis (stages 1-4 vs 0) and MRI-PDFF vs CAP for diagnosis of steatosis (grades 1-3 vs 0) with respect to findings from biopsy analysis. RESULTS MRE detected any fibrosis (stage 1 or more) with an area under the receiver operating characteristic curve (AUROC) of 0.82 (95% confidence interval [CI], 0.74-0.91), which was significantly higher than that of TE (AUROC, 0.67; 95% CI, 0.56-0.78). MRI-PDFF detected any steatosis with an AUROC of 0.99 (95% CI, 0.98-1.00), which was significantly higher than that of CAP (AUROC, 0.85; 95% CI, 0.75-0.96). MRE detected fibrosis of stages 2, 3, or 4 with AUROC values of 0.89 (95% CI, 0.83-0.96), 0.87 (95% CI, 0.78-0.96), and 0.87 (95% CI, 0.71-1.00); TE detected fibrosis of stages 2, 3, or 4 with AUROC values of 0.86 (95% CI, 0.77-0.95), 0.80 (95% CI, 0.67-0.93), and 0.69 (95% CI, 0.45-0.94). MRI-PDFF identified steatosis of grades 2 or 3 with AUROC values of 0.90 (95% CI, 0.82-0.97) and 0.92 (95% CI, 0.84-0.99); CAP identified steatosis of grades 2 or 3 with AUROC values of 0.70 (95% CI, 0.58-0.82) and 0.73 (95% CI, 0.58-0.89). CONCLUSIONS In a prospective, cross-sectional study of more than 100 patients, we found MRE to be more accurate than TE in identification of liver fibrosis (stage 1 or more), using biopsy analysis as the standard. MRI-PDFF is more accurate than CAP in detecting all grades of steatosis in patients with NAFLD.