Miracle-dz/UniFAR-FTUs huggingface dataset:
Serological screening for coeliac disease in adults with Turner's syndrome: prevalence and clinical significance of endomysium antibody positivity.

OBJECTIVE To investigate the prevalence of coeliac disease (CD) in an adult population with Turner's syndrome (TS). Design A clinic population with TS was screened using a serological test for CD. METHODS Two hundred and fifty six patients with TS were included in the study. Five patients had existing diagnoses of CD. The remaining 251 asymptomatic patients were screened using an IgA endomysium antibody (EMA) test. Positive cases were offered endoscopy with duodenal biopsy. HLA typing was undertaken in existing cases and new EMA-positive cases. RESULTS Of the 251 patients screened, eight were found to be EMA positive (3.2%). Seven patients proceeded to duodenal biopsy on which all were confirmed histologically to have cluster of differentiation (2.8%). The prevalence of subclinical cluster of differentiation in the population can therefore be estimated between 2.8 and 3.2%. The total population prevalence of CD, including the previously diagnosed cases, is estimated between 4.7 and 5.1%. Ten patients with histologically confirmed cluster of differentiation underwent HLA typing of which eight were HLA-DQ2 positive, one was HLA-DQ8 positive and one was negative to both HLA-DQ2 and HLA-DQ8. CONCLUSIONS This study demonstrates an increased prevalence of cluster of differentiation in an adult population with TS over the general population. This is consistent with previous data published in paediatric populations.
Alzheimer's disease: Case‐control association study of polymorphisms in ACHE, CHAT, and BCHE genes in a Sardinian sample

Alzheimer's disease (AD) is characterized by an extensive loss of cholinergic neurons, and their cortical projections, from the basal forebrain area. The resulting reduction in cholinergic activity is associated with decreased levels of the neurotransmitter acetylcholine (ACh), decreased activity of acetylcholinesterase (AChE), choline acetyltransferase (ChAT), and increased butyrylcholinesterase (BChE) activity. In the present study, we investigated whether the BCHE, ACHE, and CHAT genes were associated with AD and the possibility of a synergistic effect with APOE‐ε4 in a Sardinian sample. AD patients (n = 158), exclusively of Sardinian ancestry, were recruited from the Division of Geriatrics Local Health Agency 8 and Unit of Clinical Pharmacology, Department of Neurosciences, University of Cagliari. Patients were diagnosed according to DSM‐IV, and National Institute of Neurologic and Communicative Disorders and Stroke–AD and Related Disorders Association (NINCDS–ADRDA) criteria for possible or probable AD. Cognitive screening was performed by means of Mini‐Mental State Examination (MMSE). Healthy controls (n = 118) of Sardinian ancestry were recruited from religious and sport associations. All patients and control subjects gave informed consent for participation in the study. Single nucleotide polymorphism (SNP) analysis was performed by PCR/RFLP or the TaqMan 5′ exonuclease method. Our study confirms the association between APOE ε4 allele and AD (P < 0.000). No significant differences were observed in allele and genotype frequencies of BCHE, ACHE, and CHAT between AD and controls. Haplotype analysis of ACHE SNPs did not reveal a significant association between ACHE and AD. Our results suggest that the AChE, ChAT, and BChE polymorphisms do not constitute a major genetic risk factor for susceptibility to AD in a Sardinian population. © 2007 Wiley‐Liss, Inc.
Exponential approach to, and properties of, a non-equilibrium steady state in a dilute gas

We investigate a kinetic model of a system in contact with several thermal reservoirs at different temperatures $T_\alpha$. Our system is a spatially uniform dilute gas whose internal dynamics is described by the nonlinear Boltzmann equation with Maxwellian collisions. Similarly, the interaction with reservoir $\alpha$ is represented by a Markovian process that has the Maxwellian $M_{T_\alpha}$ as its stationary state. We prove existence and uniqueness of a non-equilibrium steady state (NESS) and show exponential convergence to this NESS in a metric on probability measures introduced into the study of Maxwellian collisions by Gabetta, Toscani and Wenberg (GTW). This shows that the GTW distance between the current velocity distribution to the steady-state velocity distribution is a Lyapunov functional for the system. We also derive expressions for the entropy production in the system plus the reservoirs which is always positive.
The CHAPS, SIFTER, and TAPS-R as predictors of (C)AP skills and (C)APD.

PURPOSE In this study, the authors investigated the relationships between 3 tests used to screen for (central) auditory processing disorder ([C]APD)--the Children's Auditory Performance Scale (CHAPS; W. J. Smoski, M. A. Brunt, & J. C. Tannahill, 1998), the Screening Instrument for Targeting Educational Risk (SIFTER; K. Anderson, 1989), and the Test of Auditory Perceptual Skills--Revised (TAPS-R; M. Y. Gardner, 1997)-and 4 tests used to diagnostically assess for (C)APD: Low-Pass Filtered Speech (LPFS), Competing Sentences (CS), Two-Pair Dichotic Digits (DD), and Frequency Patterns With Linguistic Report (FP). METHOD The screening and diagnostic (C)APD tests results of 104 children (71 boys, 33 girls) aged 6.9-14.3 years were reviewed following their attendance at a university clinic in Brisbane, Australia. RESULTS Pearson's product-moment correlation coefficient analysis showed weak (r = .22, p < .05) to moderate (r = .47, p < .01) correlations predominantly between the short-term and working memory test results of the TAPS-R and the DD and FP test results of the (C)AP test battery. Linear and binary logistic regression analyses showed a poor ability of the CHAPS, SIFTER, and TAPS-R test results to predict the individual LPFS, CS, DD, or FP test results or the overall risk for (C)APD. CONCLUSION The CHAPS, SIFTER, and TAPS-R should be used to highlight concerns about a child but not to determine whether a diagnostic (C)AP assessment is particularly warranted.
Impaired sense of agency in functional movement disorders: An fMRI study

The sense of agency (SA) is an established framework that refers to our ability to exert and perceive control over our own actions. Having an intact SA provides the basis for the human perception of voluntariness, while impairments in SA are hypothesized to lead to the perception of movements being involuntary that may be seen many neurological or psychiatric disorders. Individuals with functional movement disorders (FMD) experience a lack of control over their movements, yet these movements appear voluntary by physiology. We used fMRI to explore whether alterations in SA in an FMD population could explain why these patients feel their movements are involuntary. We compared the FMD group to a control group that was previously collected using an ecologically valid, virtual-reality movement paradigm that could modulate SA. We found selective dysfunction of the SA neural network, whereby the dorsolateral prefrontal cortex and pre-supplementary motor area on the right did not respond differentially to the loss of movement control. These findings provide some of the strongest evidence to date for a physiological basis underlying these disabling disorders.
Enzyme-linked immunosorbent assay for detection of human immunoglobulin G to lipopolysaccharide of spotted fever group rickettsiae

An enzyme-linked immunosorbent assay for detecting human immunoglobulin G to spotted fever group rickettsiae was developed and tested. The assay uses proteinase K-resistant material, characteristic of the rickettsial lipopolysaccharides shown to be group specific by immunoblots, as the antigen. The results indicate that the assay provides a sensitive, yet specific, alternative method for diagnosing rickettsial diseases.
Identification of Ubiquitin Ligases Required for Skeletal Muscle Atrophy

Skeletal muscle adapts to decreases in activity and load by undergoing atrophy. To identify candidate molecular mediators of muscle atrophy, we performed transcript profiling. Although many genes were up-regulated in a single rat model of atrophy, only a small subset was universal in all atrophy models. Two of these genes encode ubiquitin ligases: Muscle RING Finger 1 (MuRF1), and a gene we designate Muscle Atrophy F-box(MAFbx), the latter being a member of the SCF family of E3 ubiquitin ligases. Overexpression of MAFbx in myotubes produced atrophy, whereas mice deficient in either MAFbx orMuRF1 were found to be resistant to atrophy. These proteins are potential drug targets for the treatment of muscle atrophy.
Cannabis-induced attenuated psychotic symptoms: implications for prognosis in young people at ultra-high risk for psychosis

Background Cannabis use shows a robust dose-dependent relationship with psychosis risk among the general population. Despite this, it has been difficult to link cannabis use with risk for transitioning to a psychotic disorder among individuals at ultra-high risk (UHR) for psychosis. The present study examined UHR transition risk as a function of cannabis use characteristics which vary substantially between individuals including age of first use, cannabis abuse severity and a history of cannabis-induced attenuated psychotic symptoms (APS). Method Participants were 190 UHR individuals (76 males) recruited at entry to treatment between 2000 and 2006. They completed a comprehensive baseline assessment including a survey of cannabis use characteristics during the period of heaviest use. Outcome was transition to a psychotic disorder, with mean time to follow-up of 5.0 years (range 2.4–8.7 years). Results A history of cannabis abuse was reported in 58% of the sample. Of these, 26% reported a history of cannabis-induced APS. These individuals were 4.90 (95% confidence interval 1.93–12.44) times more likely to transition to a psychotic disorder (p = 0.001). Greater severity of cannabis abuse also predicted transition to psychosis (p = 0.036). However, this effect was mediated by higher abuse severity among individuals with a history of cannabis-induced APS. Conclusions Findings suggest that cannabis use poses risk in a subpopulation of UHR individuals who manifest cannabis-induced APS. Whether this reflects underlying genetic vulnerability requires further study. Nevertheless, findings reveal an important early marker of risk with potentially significant prognostic utility for UHR individuals.
The Dermatomal Spread of Epidural Bupivacaine With and Without Prior Intrathecal Sufentanil

Clinicians often use a technique combining intrathecal sufentanil and epidural bupivacaine to provide labor analgesia.This study determines the effect of 27- or 24-gauge dural puncture and intrathecal sufentanil 10 micro gram on the dermatomal spread of epidural bupivacaine. Healthy laboring women received no dural puncture (n = 77) (no puncture group [NPG]) or dural puncture with a 27-gauge Whitacre needle (n = 33) or a 24-gauge Sprotte needle (n = 37) and intrathecal sufentanil 10 micro gram (dural puncture group [DPG]) before epidural injection of 13 mL bupivacaine 0.25%. More dermatomes were anesthetized in the DPG, 16.6 +/- 7.5 vs 13.6 +/- 6.6 in the NPG (P < 0.02). More patients in the DPG had sensory blockade T-4 or higher (17 of 70 DPG patients vs 8 of 77 NPG patients; P < 0.05). No patient in either group showed clinical evidence of respiratory compromise. In conclusion, epidural bupivacaine anesthetized more dermatomes when administered 104 +/- 42 min after dural puncture and intrathecal sufentanil 10 micro gram than when given without prior dural puncture and intrathecal injection. (Anesth Analg 1996;83:526-9)
Cut Tree Algorithms: An Experimental Study

This is an experimental study of algorithms for the cut tree problem. We study the Gomory? Hu and Gusfield algorithms as well as heuristics aimed to make the former algorithm faster. We develop an efficient implementation of the Gomory? Hu algorithm. We also develop problem families for testing cut tree algorithms. In our tests, the Gomory? Hu algorithm with a right combination of heuristics was significantly more robust than Gusfield's algorithm.
Which diabetic patients should be taking aspirin?

Low dose aspirin has been shown to reduce the risk of myocardial infarction and thrombotic stroke in patients at high risk of vascular death. Does aspirin work in diabetic patients? Is the diagnosis of diabetes sufficient to warrant starting a patient on aspirin? And does aspirin confer any specific advantages or risks on these patients? Firstly, does it help? Several large studies have been conducted in diabetic patients, some aimed at preventing cardiovascular disease and others at slowing progression of retinopathy or nephropathy. The Veterans Administration study looked at the efficacy of aspirin and dipyridamole in preventing progression of cardiovascular and peripheral vascular disease in 231 diabetic men with limb gangrene or recent amputation for ischaemia.1 There were no differences in the incidence of either end point. The early treatment diabetic retinopathy study randomised 3711 patients with insulin dependent and non-insulin dependent diabetes to aspirin 650 mg daily or placebo.2 Patients treated with aspirin had 13% fewer cardiovascular deaths—a non-significant difference. Inevitably, small numbers of patients and events in studies of this type result in outcomes with fairly wide confidence intervals. The Antiplatelet Trialists' Collaboration avoided the problem of small numbers by conducting a meta-analysis of the efficacy of antiplatelet agents in preventing myocardial infarction, stroke, and vascular death.3 Among nearly 47000 patients considered to be at …
A mediastinal mass after donor lymphocyte infusion for relapse of chronic myeloid leukemia after allogeneic stem cell transplantation

A 33-year-old Nigerian woman who lived in the Netherlands was treated for Ph-chromosome positive chronic myeloid leukemia (CML). She attained hematological remission with hydroxyurea only. Transplantation was performed with stem cells from her HLA-identical brother (A30, 74; B57, 53; Bw4, w4; DRB1*13xx; DRB3*pos; DQB1*0202; DQB1*0501). The graft was partially depleted of lymphocytes using CD34 selection and the number of CD3þ cells given within the graft was 0.1610/kg body weight. No problems occurred and she was dismissed on day 15. The patient had no acute graft-vshost disease (GVHD) and cyclosporine was withdrawn 2 months after transplantation. Quantitative polymerase chain reaction (PCR)-Bcr/Abl in blood [1] decreased to 4.0610 but, between 3 and 6 months after stem cell transplant (SCT), an almost two log increment was found. Six months after SCT, blood counts were normal and bone marrow analysis showed normal cellularity. However, in situ hybridization (ISH) of 400 marrow cells showed that 118 cells (30%) were of an acceptor origin. These cells were Phchromosome positive and had an additional del (17) (p12). This deletion was not present before SCT. The patient was treated with donor lymphocyte infusions (DLI) (0.1610 CD3þ cells/kg). Two weeks later, she had arthralgia and retrosternal discomfort, but no signs or symptoms of GVHD. Pathologically, on computed tomography, enlarged masses in the anterior and middle mediastinum were found together with hilar lymphadenopathy. Furthermore, interstitial lung abnormalities were present. She had no peripheral lymphadenopathy and leukocytes plus differentials were normal. PCR for Epstein – Barr virus was negative. There was no hypercalcemia and serum angiotensin-converting enzyme (ACE) was 24.4 U/l (normal values 520). Cervical mediastinoscopy was performed and histopathological examination showed non-necrotising granulomas. Stainings for ZN and fungi were negative and she had no chloroma or lymphoma. Three months after DLI, the patient entered myeloid blastic phase. She was treated with imatinib mesylate for CML and with methylprednisolon for sarcoidosis. However, almost 4 months after DLI, she died from acute respiratory distress syndrome. At autopsy, disseminated localization of fibrosing sarcoidosis in lungs, kidneys and lymph nodes was demonstrated. ISH using a Y-chromosome specific probe (plasmid probe DYZ3), showed that granuloma cells were from donor origin and that these granuloma cells were surrounded by lymphocytes from donor origin (Figure 1). The patient’s donor lived in the UK. Ten months before work-up for transplantation, he had been treated for Graves’ thyrotoxicosis. At check-up for SCT, physical examination was normal. Thyroidstimulating hormone (TSH) was 0.04 mIU/l and FT4 was elevated to 35.5 pmol/l indicating hyperthyroidism. An X-ray of the chest showed no abnormalities. The donor was found suitable for granulocyte colony-stimulating factor mobilization and stem cell apheresis was performed without
Plantar fasciitis in athletes: diagnostic and treatment strategies. A systematic review.

BACKGROUND Plantar fasciitis (PF) is reported in different sports mainly in running and soccer athletes. Purpose of this study is to conduct a systematic review of published literature concerning the diagnosis and treatment of PF in both recreational and élite athletes. The review was conducted and reported in accordance with the PRISMA statement. METHODS The following electronic databases were searched: PubMed, Cochrane Library and Scopus. As far as PF diagnosis, we investigated the electronic databases from January 2006 to June 2016, whereas in considering treatments all data in literature were investigated. RESULTS For both diagnosis and treatment, 17 studies matched inclusion criteria. The results have highlighted that the most frequently used diagnostic techniques were Ultrasonography and Magnetic Resonance Imaging. Conventional, complementary, and alternative treatment approaches were assessed. CONCLUSIONS In reviewing literature, we were unable to find any specific diagnostic algorithm for PF in athletes, due to the fact that no different diagnostic strategies were used for athletes and non-athletes. As for treatment, a few literature data are available and it makes difficult to suggest practice guidelines. Specific studies are necessary to define the best treatment algorithm for both recreational and élite athletes. LEVEL OF EVIDENCE Ib.
The human liver clears both asymmetric and symmetric dimethylarginine

Asymmetric (ADMA) and symmetric dimethylarginine (SDMA) inhibit production of nitric oxide. The concentration of both dimethylarginines is regulated by urinary excretion, although ADMA, but not SDMA, is also subject to degradation by dimethylarginine dimethylaminohydrolase, which is highly expressed in the liver but also present in the kidney. The exact roles of the human liver and kidney in the metabolism of dimethylarginines are currently unknown. Therefore, we aimed to investigate renal and hepatic handling of ADMA and SDMA in detail in 24 patients undergoing hepatic surgery. To calculate net organ fluxes and fractional extraction (FE) rates, blood was collected from an arterial line, the portal vein, hepatic vein, and renal vein, and blood flow of the hepatic artery, portal vein, and renal vein was determined using Doppler ultrasound techniques. Results showed a significant net uptake (median [IQR]) of ADMA in both the liver (9.6 nmol/min [5.6–13.2]) and the kidney (12.1 nmol/min [1.3–17.1]). SDMA uptake was present not only in the kidney (12.7 nmol/min [3.5–25.4]), but also in the liver (7.7 nmol/min [2.8–16.4]). FE rates of ADMA for the liver and kidney were 5.0% (3.5%–7.4%) and 8.4% (1.3%–13.9%), respectively. For SDMA, hepatic and renal FE rates were 3.4% (2.1%–7.5%) and 12.5% (3.6%–16.2%), respectively. In conclusion, this study gives a detailed description of the hepatic and renal elimination of dimethylarginines and shows that the clearing of SDMA is not only confined to the kidney, but the human liver also takes up substantial amounts of SDMA from the portal and systemic circulation. (HEPATOLOGY 200541:559–565.)
Cancellation of Torque Ripples With FOC Strategy Under Two-Phase Failures of the Five-Phase PM Motor

This paper investigates torque ripples cancellation of a five-phase (5Ph) permanent magnet (PM) motor under open fault of two phases, where failure phases are either adjacent or nonadjacent. In recent works, torque ripples cancellation is performed at a stationary frame and postfault current solutions for constant output torque are complicated. To implement field-oriented control (FOC) and carrier-based pulse width modulation, reduced-order Clarke and Park transformations are proposed. With the coordinate transformation, a 5Ph motor model under unbalanced conditions has been decoupled. Along with this, the fundamental torque at the d-q frame also remains the same as the healthy case. However, third harmonic of winding density distribution results in torque ripples. To reduce dependence on mathematical model of torque ripples, sliding mode control is employed to calculate q -axis current reference while keeping constant the rotor speed. Decoupled models corresponding to two types of faults, which are adjacent and nonadjacent open fault, are confirmed by finite element analysis, and effectiveness of proposed torque ripples cancellation method is verified on the 5Ph drive in the laboratory.
Rate of preterm birth in pregnant women with vitamin E treatment: a population-based study

Objective: Vitamin E is frequently used for prevention/treatment of repeated or threatened abortion and threatened preterm delivery in Hungarian pregnant women, though, internationally this old-fashion method is not recommended. Methods: The rate of preterm birth of newborns in pregnant women with high dose (estimated daily dose 450 mg) vitamin E treatment or without this treatment was compared in the population-based large data set of the Hungarian Case-Control Surveillance System of Congenital Abnormalities. Results: Of 38,151 newborns with any defect, 2,287 (6.0%) had mothers with vitamin E treatment. Pregnant women with vitamin E treatment had very high rate of threatened abortion (43.6% vs. 15.4%) and high rate of threatened preterm delivery (27.5% vs. 13.4%) compared to pregnant women without vitamin E treatment. Nevertheless, the gestational age at delivery was 0.2 week longer and rate of preterm births was lower in the newborns of pregnant women with vitamin E treatment (6.6% vs. 9.3%; adjusted OR with 95% CI: 0.71, 0.63–0.84). This preterm preventive effect of vitamin E treatment could not be explained by known confounders, though folic acid/multivitamins also reduced the rate of preterm birth. Conclusion: The study showed nearly 30% reduction in preterm births of pregnant women with vitamin E treatment.
Using gliders to study a phytoplankton bloom in the Ross Sea, antarctica

Over the last several decades, numerous approaches have been used to observe the rapid development of the annual phytoplankton bloom in the Ross Sea, including ship-based sampling, moored instrumentation, satellite images, and computer modeling efforts. In the Austral Spring of 2010, our group deployed a pair of iRobot Seagliders equipped with fluorometers, oxygen sensors and CTDs in order to obtain data on this phenomenon over the entire duration of the bloom. Data from these deployments will be used, along with samples from the recovery cruise and satellite data, to model and better understand the dynamics of this phytoplankton bloom.