ADAM TS

This is a summary report of clinical and regulatory issues discussed at the 2018 NINDS workshop, entitled "Accelerating Therapies for Antiepileptogenesis and Disease Modification." The intent of the workshop was to optimize and accelerate development of therapies for antiepileptogenesis (AEG) and disease modification in the epilepsies. The working group discussed nomenclature for antiepileptogenic therapies, subdividing them into "antiepileptogenic therapies" and "disease modifying therapies," both of which are urgently needed...

PURPOSE: 10-year retrospective study to assess burden of illness in individuals with tuberous sclerosis complex (TSC) identified from German healthcare data. METHODS: Patients with TSC were identified by International Classification of Diseases code Q85.1. Patients with epilepsy were identified by epilepsy diagnosis or antiseizure medication (ASM) prescription after TSC diagnosis. RESULTS: Using data from 2016 (final study year), 100 patients with TSC were identified (mean [range] age: 38 [1-86] years; male: 40%); prevalence: 7...

OBJECTIVES: Iliosacral (IS) and transsacral (TS) screws are commonly used to stabilize pelvic ring injuries. The course of the superior gluteal artery (SGA) can be close to implant insertion paths. The third sacral segment (S3) has been described as a viable osseous fixation pathway (OFP) but the proximity of the SGA to the S3 screw path is unknown. METHODS: Fifty uninjured patients with contrasted pelvic computed tomograms (CTA) were identified with an S3 path large enough for a 7...

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We investigated the effects of hypoxia-inducible factor (HIF)-1α on articular cartilage under mechanical stimulation and the associated mechanisms. Chondrocytes, isolated from articular cartilage from the knee, hip, and shoulder joints of Wistar rats, were subjected to 20 % tensile stress under hypoxic (5% O2 ) conditions for 24 h. HIF-1α and aggrecan expression was significantly enhanced with mechanical stimulation under hypoxia but not significantly altered with mechanical stimulation under normoxia. The nuclear translocation of HIF-1α was enhanced by mechanical stress under hypoxia...

Wood carbon (C) concentration is a key wood trait that varies widely among tree species, but our understanding of the factors governing this trait is limited, despite reason to hypothesize that wood C varies systematically across environmental gradients. We compiled a novel database of 1,145 geo-referenced wood C observations from 415 species, to elucidate climate correlates of wood C concentrations, and test if these relationships differ across tissue types and major taxonomic divisions (i.e., angiosperms vs...

BACKGROUND: Tuberous sclerosis complex (TSC) is a monogenetic, multisystemic disease characterised by the formation of benign tumours that can affect almost all organs, caused by pathogenic variations in TSC1 or TSC2. In this multicentre study from Germany, we investigated the influence of sociodemographic, clinical, and therapeutic factors on quality of life (QoL) among individuals with TSC. METHODS: We assessed sociodemographic and clinical characteristics and QoL among adults with TSC throughout Germany using a validated, three-month, retrospective questionnaire...

Gilles de la Tourette syndrome (GTS) can be characterized by enhanced cognitive functions related to creating, modifying and maintaining connections between stimuli and responses (S-R links). Specifically, two areas, procedural sequence learning and, as a novel finding, also event file binding, show converging evidence of hyperfunctioning in GTS. In this review, we describe how these two enhanced functions can be considered as cognitive mechanisms behind habitual behaviour, such as tics in GTS. Moreover, the presence of both procedural sequence learning and event file binding hyperfunctioning in the same disorder can be treated as evidence for their functional connections, even beyond GTS...

BACKGROUND: Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects many organs and systems, characterized by benign growths. This German multicenter study estimated the disease-specific costs and cost-driving factors associated with various organ manifestations in TSC patients. METHODS: A validated, three-month, retrospective questionnaire was administered to assess the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket, and nursing care-level costs, completed by caregivers of patients with TSC throughout Germany...

Introduction: Evidence suggests that attention to pain is a product of both incoming sensory signals and cognitive evaluation of a stimulus. Intrinsic attention to pain (IAP) is a measure that captures an individual's natural tendency to attend to a painful stimulus and may be important in understanding why pain disrupts cognitive functioning in some individuals more than others. Objective: In this study, we explored the extent to which IAP was associated with the modulation of incoming sensory signals characteristic of a pronociceptive phenotype: temporal summation (TS) and conditioned pain modulation (CPM)...

There is a need for valves and pumps that operate at the microscale with precision and accuracy, are versatile in their application, and are easily fabricated. To that end, we developed a new rotary planar multiport valve to faithfully select solutions (contamination = 5.22 ± 0.06 ppb) and a rotary planar peristaltic pump to precisely control fluid delivery (flow rate = 2.4 ± 1.7 to 890 ± 77 μL/min). Both the valve and pump were implemented in a planar format amenable to single-layer soft lithographic fabrication...

BACKGROUND: Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter study estimated the costs and related cost drivers associated with organ manifestations in adults with TSC. METHODS: A validated, three-month, retrospective questionnaire assessed the sociodemographic and clinical characteristics, organ manifestations, direct, indirect, out-of-pocket (OOP), and nursing care-level costs among adult individuals with TSC throughout Germany from a societal perspective (costing year: 2019)...

Recombinant human growth hormone (r-hGH) is used as a therapeutic agent for disorders of growth including growth hormone deficiency (GHD) and Turner syndrome (TS). Treatment is costly and current methods to model response are inexact. GHD (n = 71) and TS patients (n = 43) were recruited to study response to r-hGH over 5 years. Analysis was performed using 1219 genetic markers and baseline (pre-treatment) blood transcriptome. Random forest was used to determine predictive value of transcriptomic data associated with growth response...

BACKGROUND: Misophonia is a condition marked by dysregulated emotions and behaviors in response to trigger sounds, often chewing, breathing, or coughing. Evidence suggests that misophonia develops in adolescence and the emotions and behaviors are a conditioned response to distress, resulting in social avoidance, stress, and family conflict. In addition, co-occurrence with other psychiatric illnesses such as anxiety, OCD, and Tourette syndrome is common. A transdiagnostic cognitive behavioral therapeutic (CBT) approach appears appropriate...

Novel evidence is presented allowing further clarification of the mechanism of the slow-binding thymidylate synthase (TS) inhibition by N4 -hydroxy-dCMP (N4 -OH-dCMP). Spectrophotometric monitoring documented time- and temperature-, and N4 -OH-dCMP-dependent TS-catalyzed dihydrofolate production, accompanying the mouse enzyme incubation with N4 -OH-dCMP and N5,10 -methylenetetrahydrofolate, known to inactivate the enzyme by the covalent binding of the inhibitor, suggesting the demonstrated reaction to be uncoupled from the pyrimidine C(5) methylation...

OBJECTIVES: To determine the frequency of fixation failure after transsacral-transiliac (TS) screw fixation of vertical shear (VS) pelvic ring injuries (OTA/AO 61C1) and to describe the mechanism of failure of TS screws. DESIGN: Retrospective cohort study. SETTING: Level 1 academic trauma center. PATIENTS/PARTICIPANTS: Twenty skeletally mature patients with unilateral, displaced, unequivocal VS injuries were identified between May 1, 2009 and April 31, 2016...

This investigation determined the influence of technique and experience on arm retraction force required to apprehend a non-compliant suspect. Phase-One: Nine experienced RAAF military-police completed four apprehension simulations, peak arm retraction force was measured; i) Control( CON ), ii) Pressure-Point( PP ), iii) Targeted-Striking( TS ) and iv) 2-Person( 2Per ) techniques. Phase-Two: Experienced ( EXP , n = 8 ) or Inexperienced ( INEXP , n = 22) military-police completed CON , PP and Pressure-Point + Coaching( PP + C )...

PURPOSE: We compared the accuracy and design of two thermoregulatory models, the US Army's empirically designed Heat Strain Decision Aid (HSDA) and the rationally based Health Risk Prediction (HRP) for predicting human thermal responses during exercise in hot and humid conditions and wearing chemical protective clothing. METHODS: Accuracy of the HSDA and HRP model predictions of core body and skin temperature (Tc, Ts) were compared to each other and relative to measured outcomes from eight male volunteers (age 24 ± 6 years; height 178 ± 5 cm; body mass 76...

Objective: Dietary supplements are widely used. However, dietary supplements are not always safe. For example, an estimated 23 000 emergency room visits every year in the United States were attributed to adverse events related to dietary supplement use. With the rapid development of the Internet, consumers usually seek health information including dietary supplement information online. To help consumers access quality online dietary supplement information, we have identified trustworthy dietary supplement information sources and built an evidence-based knowledge base of dietary supplement information-the integrated DIetary Supplement Knowledge base (iDISK) that integrates and standardizes dietary supplement related information across these different sources...

A homo-dimeric enzyme, thymidylate synthase (TS), has been a long-standing molecular target in chemotherapy. To further elucidate properties and interactions with ligands of wild-type mouse thymidylate synthase (mTS) and its two single mutants, H190A and W103G, spectroscopic and theoretical investigations have been employed. In these mutants, histidine at position 190 and tryptophan at position 103 are substituted with alanine and glycine, respectively. Several emission-based spectroscopy methods used in the paper demonstrate an especially important role for Trp 103 in TS ligands binding...