anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
BACKGROUND: As gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis pigmentosa (RP)-related genes in a large number of Japanese patients with RP by applying the standardised variant interpretation guidelines for Japanese patients with IRD (J-IRD-VI guidelines) built upon the American College of Medical Genetics and Genomics and the Association for Molecular Pathology rules, and assess the contribution of these genes in RP-allied diseases.
METHODS: We assessed 2325 probands with RP (n=2155, including n=1204 sequenced previously with the same sequencing panel) and allied diseases (n=170, newly analysed), including Usher syndrome, Leber congenital amaurosis and cone-rod dystrophy (CRD). Target sequencing using a panel of 86 genes was performed. The variants were interpreted according to the J-IRD-VI guidelines.
RESULTS: A total of 3564 variants were detected, of which 524 variants were interpreted as pathogenic or likely pathogenic. Among these 524 variants, 280 (53.4%) had been either undetected or interpreted as variants of unknown significance or benign variants in our earlier study of 1204 patients with RP. This led to a genetic diagnostic rate in 38.6% of patients with RP, with EYS accounting for 46.7% of the genetically solved patients, showing a 9% increase in diagnostic rate from our earlier study. The genetic diagnostic rate for patients with CRD was 28.2%, with RP-related genes significantly contributing over other allied diseases.
CONCLUSION: A large-scale genetic analysis using the J-IRD-VI guidelines highlighted the population-specific genetic findings for Japanese patients with IRD; these findings serve as a foundation for the clinical application of gene-specific therapies.
Individuals experiencing an asthma exacerbation will be recruited from the University of Alberta Hospital Emergency Department. Once discharged, a blood sample will be taken, and endothelial function will be assessed using brachial artery flow mediated dilation. Arterial stiffness will be assessed using carotid-radial pulse wave velocity. Participants will complete the same assessments at a follow up date 48 hours and 14 days post-discharge, with the addition of a full pulmonary function test, physical activity assessment via a Fitbit, and the completion of two questionnaires: Asthma Control Questionnaire, and Asthma Quality of Life Questionnaire.
AIMS: We investigated the potential mechanisms underlying the therapeutic efficacy of electroacupuncture (EA) at the Shuigou (GV26) and Baihui (GV20) acupoints in the treatment of ischemic stroke.
METHODS: We assessed the therapeutic effects of EA on MCAO mice through behavioral studies and TTC staining. Various techniques, such as RT-PCR, immunofluorescence, and Western blots, were employed to evaluate the activation and polarization of microglia/macrophages, and changes in the TRPV4 ion channel. We used the TRPV4 antagonist GSK2193874 (GSK219) to verify the involvement of TRPV4 in the therapeutic effects of EA.
RESULTS: EA effectively improved neurological impairments and reduced cerebral infarction volume in MCAO mice. It suppressed activated microglia/macrophages and inhibited their polarization toward the M1 phenotype post-MCAO. EA also downregulated the expression of pro-inflammatory cytokines, including Tnf-α, Il-6, Il-1β, and Ccl-2 mRNA. Furthermore, EA reduced the elevated expression of TRPV4 following MCAO. Treatment with the TRPV4 antagonist GSK219 mirrored the effects of EA in MCAO mice. Notably, the combination of EA and GSK219 did not demonstrate an additive or synergistic effect.
CONCLUSION: EA may inhibit neuroinflammation and exhibit a protective effect against ischemic brain injury by suppressing TRPV4 and the subsequent M1 polarization of microglia/macrophages.
This is a randomized, open-label study design. Starting in July 2019, approximately 550 to 700 HCP from two hospitals (275-350 per hospital site) in Israel will be enrolled. Following completion of a written consent form, participants will complete an enrollment survey and grant permission for review of information collected during the SHIRI study, including vaccination status and immune response during the SHIRI study years. Participants will complete an enrollment survey and grant permission to include and integrate information collected during the SHIRI study into the current study's data, including health history, influenza vaccination history, and immune response to vaccination during the SHIRI study years. HCP will be randomly assigned 1:1 to receive a single dose of IIV4 licensed in Israel (expected to be Vaxigrip® Quadrivalent, 15µg of HA per strain) or RIV4 (Flublok® Quadrivalent by Sanofi Pasteur, 45µg of HA per strain) during August-October of 2019. Adverse events following vaccination will be monitored and documented. Blood specimens will be collected prior to vaccination and approximately 28 days after to evaluate immune responses to vaccination.

Eligible HCP who were already vaccinated with Vaxigrip, the vaccine that is routinely available in Israel, at the time they are approached to join the study, will be invited to join the study as part of the Vaxigrip arm. Like randomized participants, participants who were vaccinated with Vaxigrip outside the study will complete a written consent form, an enrollment survey and grant permission for review of information collected during the SHIRI study, including vaccination status and immune response during the SHIRI study years. As part of the consent form, participants will record the estimated date that they received the vaccine, and the location, and will authorize study staff to verify the date of current-year Vaxigrip vaccination in the Clalit EMR and with the hospital vaccination staff. Participants will complete an enrollment survey and grant permission to include and integrate information collected during the SHIRI study into the current study's data, including health history, influenza vaccination history, and immune response to vaccination during the SHIRI study years. Blood specimens will be collected approximately 28 days after to evaluate immune responses to vaccination.
A method and apparatus for gaze-based communications. A gaze of a user is detected being directed at an element in a graphical user interface. The graphical user interface is displayed on a display system located in an environment. A state of the element is changed in response to detecting that the gaze is directed at the element. Audio information is received through an audio input device. An output operation is controlled based on the state of the element such that the audio information received through the audio input device is directed to an information conveyor corresponding to the element.
A protective garment for the torso of a body and in particular a chest protector for baseball umpires which has an inner flexible layer and outer shell layer. The inner layer is in the form of a flexible pad adapted to conform to the contour of the torso. The inner layer has an inner and outer surface and an intermediate thickness of cushioning material adapted to distribute impacts against a given area of the outer layer over an area of the inner layer which is at least as great, as said given area. The outer shell layer is adapted to overlie said inner layer and comprises a plurality of interconnected plate elements. Each plate element is positioned and arranged to overlie a selected area of the torso. The garment also has both flexible straps and a cover element for interconnecting the plate elements to form a torso-fitting outer shell and releasable fasteners to interconnect the inner layer and outer shell layer. The releasable fasteners include anchor straps which pass through a pair of spaced-parallel slots in the plate elements and are releasably connected together between the pair of slots.
<P>PROBLEM TO BE SOLVED: To provide a clinical chart storage position detecting device for notifying a position for storing a clinical chart.  <P>SOLUTION: An IC tag 5 includes an antenna 31 for the tag for generating induced electromotive force in an alternating field, a tag storage part 36 recording second identification information, and a tag control part 37 reading out and outputting the second identification information by the antenna 31 for the tag. A display part 8 notifies that a clinical chart file 4 is stored in a clinical chart storage area 18. A body control part 10 determines whether or not the second identification information coincides with first identification information by receiving and detecting the second identification information outputted from the antenna 31 for the tag. The body control part 10 notifies that the clinical chart file 4 for arranging the IC tag 5 for storing the second identification information coincident with the first identification information is stored in the clinical chart storage area 18 by the display part 8.  <P>COPYRIGHT: (C)2008,JPO&INPIT
The efficacy of episiotomy, particularly the angle of incision in mediolateral episiotomies, remains a significant area of inquiry in obstetrics. This meta-analysis aimed to evaluate the impact of low-angle mediolateral episiotomy on perineal wound healing and pain outcomes in women undergoing vaginal childbirth. Adhering to PRISMA guidelines, a systematic review was conducted using the PICO framework. Studies were selected based on predefined inclusion and exclusion criteria, focusing on randomised controlled trials (RCTs) involving low-angle mediolateral episiotomies. Comprehensive literature searches were performed across major electronic databases including PubMed, Embase, Web of Science and Cochrane Library. Data extraction and quality assessments were meticulously carried out by independent reviewers, employing the Cochrane Collaboration's risk of bias tool. A total of 1246 articles were initially identified, with 8 articles meeting the strict inclusion criteria for the final analysis. The meta-analysis revealed significant heterogeneity among studies regarding postoperative pain (p < 0.0001, I2 = 77.5%), and employed a random-effects model. Results showed that low-angle episiotomies significantly reduced postoperative pain (OR = 0.27, 95% CI: 0.17-0.42, p < 0.001), and increased first-degree healing rates (OR = 2.95, 95% CI: 2.20-3.96, p < 0.001) compared to traditional angles. Sensitivity analyses confirmed the stability of these findings, and no significant publication bias was detected. The analysis suggests that low-angle episiotomies can potentially reduce postoperative perineal pain and enhance wound healing. However, the limited number and varying quality of the included studies warrant cautious interpretation of these results. Further well-designed studies are needed to corroborate these findings and guide clinical practice.
Accurate determination of pre-pregnancy weight is essential for optimal pregnancy monitoring and antenatal care. Determining pre-pregnancy weight in limited-resources settings is challenging for both clinical practice and public health research. From a 2014-2017 pre-pregnancy cohort in Benin, we evaluated the agreement between the measured pre-pregnancy weight (MPPW) and two proxies: (i) the first trimester pregnancy weight (FTPW) and (ii) the estimated pre-pregnancy weight (EPPW) using Thomas & al. formula. We analysed data from 302 pregnant women with both pre-pregnancy weight measured within 3 months before conception and weight measured during the first trimester. Using segmented linear regression, we first assessed up to which gestational age the weight measured during the first trimester could reasonably estimate the MPPW. Then the Bland & Altman method was used to assess agreement between MPPW and the two proxies. Additional analyses were performed to assess the sensitivity of results to the timing of measurement of either MPPW or the two proxies. On average, FTPW did not feature significant difference with MPPW up to 13.03 (11.99-14.06) weeks of gestational age. FTPW, measured on average at 7 ± 2.4 weeks of gestation, and the EPPW showed similar Bland & Altman limits of agreement with the MPPW. However, while the FTPW slightly underestimated the MPPW by a mean of-0.16 (-0.08; +0.39) kg, the EPPW overestimated it by a mean of + 0.43 (+0.20; +0.66) kg. Minor differences in these results were observed when the MPPW was assessed earlier or within three months before pregnancy, or according to the gestational age at the time of the proxy's measurement. In conclusion, in Southern Benin and up to 12-14 weeks of pregnancy, the FTPW appeared to be a good proxy of the MPPW while using Thomas' formula did not enhance pre-pregnancy weight estimation.
This group received systematic education about nutrition and diabetes combined with a structured dietary intervention. Participants in the 100g-ONOG plus diet groups were asked to replace their customarily used staple food with oat porridge containing 100g ONOG.
Atypical antipsychotics cause orthostatic hypotension and syncope. Generally, the risk is greatest during initial dose titration and when increasing the dose. In the short-term, placebo-controlled clinical studies of brexpiprazole tablets plus ADT in adult patients with MDD, the incidence of orthostatic hypotension-related adverse reactions in brexpiprazole tablets plus ADT-treated patients compared to placebo plus ADT-treated patients included: dizziness (2% versus 2%) and orthostatic hypotension (0.1% versus 0%). In the short-term, placebo-controlled clinical studies of brexpiprazole tablets in adult patients with schizophrenia, the incidence of orthostatic hypotension-related adverse reactions in brexpiprazole tablets-treated patients compared to placebo patients included: dizziness (2% versus 2%), orthostatic hypotension (0.4% versus 0.2%), and syncope (0.1% versus 0%).

Orthostatic vital signs should be monitored in patients who are vulnerable to hypotension (e.g., elderly patients, patients with dehydration, hypovolemia, concomitant treatment with antihypertensive medication), patients with known cardiovascular disease (history of myocardial infarction, ischemic heart disease, heart failure, or conduction abnormalities), and patients with cerebrovascular disease. Brexpiprazole tablets has not been evaluated in patients with a recent history of myocardial infarction or unstable cardiovascular disease. Such patients were excluded from the premarketing clinical trials.
PURPOSE:To provide the subject suppressing agent containing an active component comprising a component effective in inactivating tumor necrosis factor (TNF) or removing the factor from the circulatory system. CONSTITUTION:The objective agent contains, as an active component, a sub stance effective in inactivating TNF or removing the factor from the circulatory system. The substance is preferably an anti-TNF antibody, especially an anti- TNF neutralizing antibody. The administration of said agent suppresses or mitigates the systemic shock or local organopathy and dermatopathy caused by Schwartzman reaction. It is administered at a rate of <=20mg/kg, preferably 0.1-15mg/kg per day. The above antibody can be produced in an animal body immunized with TNF or produced by a hybridoma cell.
Patients follow a standardized thermal cure that is a sedative, relaxing, antalgic and mobilizing treatment based on muds application, hydrotherapy and physiotherapy. The cure is made of 72 treatments selected among a list including muds application, massages, reeducation in thermal pool, baths and showers.
Pre-treatment with .alpha., .beta. unsaturated aryl sulfones protects normal cells from the toxic side effects of ionizing radiation. Administration of a radioprotective .alpha., .beta. unsaturated aryl sulfone compound to a patient prior to anticancer radiotherapy reduces the cytotoxic side effects of the radiation on normal cells. The radioprotective effect of the .alpha., .beta.  unsaturated aryl sulfone allows the clinician to safely increase the dosage of anticancer radiation. In some instances, amelioration of toxicity following inadvertent radiation exposure may be mitigated with administration of .alpha., .beta. unsatured arylsulfone.
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome associated with sudden cardiac death. Accurate interpretation and classification of genetic variants in LQTS patients are crucial for effective management. All patients with LQTS with a positive genetic test over the past 18 years (2002-2020) in our single tertiary pediatric cardiac center were identified. Reevaluation of the reported variants in LQTS genes was conducted using the American College of Genetics and Genomics (ACMG) guideline after refinement by the US ClinGen SVI working group and guideline by Walsh et al. on genetic variant reclassification, under multidisciplinary input. Among the 59 variants identified. 18 variants (30.5%) were reclassified. A significant larger portion of variants of unknown significance (VUS) were reclassified compared to likely pathogenic (LP)/pathogenic (P) variants (57.7% vs 9.1%, p < 0.001). The rate of reclassification was significantly higher in the limited/disputed evidence group compared to the definite/moderate evidence group (p = 0.0006). All LP/P variants were downgraded in the limited/disputed evidence group (p = 0.0057). VUS upgrades are associated with VUS located in genes within the definite/moderate evidence group (p = 0.0403) and with VUS present in patients exhibiting higher corrected QT intervals (QTc) (p = 0.0445). A significant number of pediatric LQTS variants were reclassified, particularly for VUS. The strength of the gene-disease association of the genes influences the reclassification performance. The study provides important insights and guidance for pediatricians to seek for reclassification of "outdated variants" in order to facilitate contemporary precision medicine.
This study was to apply the anthropometric methods to correlate the length of fingers to occlusal vertical dimensions and also by using the Willis Method to assess the occlusal vertical dimension for edentulous patients and assess satisfaction by comparing both the methods for patients who are in the process of acquiring complete dentures. Furthermore, conventional methods are applied most commonly for the recording of occlusal vertical dimensions. This study also bridged the knowledge gap among clinicians to adapt to a different methodology for recording the VDO using the anthropometric measurement of fingers which would improve denture satisfaction. Therefore, a total of 71 patients were selected for this study, having lost their OVD due to the complete absence of teeth and having no history of maxillofacial or orthognathic surgery, nor any skeletal deformities or disfigurement of fingers. The measurements were made at the appointment for jaw relations records in which the length of the fingers was measured with a digital Vernier caliper and also the conventional methods were applied for recording the occluding vertical dimensions which included recording the distance from the base of the nose septum (Subnasion - Sn) to the base of the chin (Menton - Me) (Sn-Me). The length of the index finger (2D) was recorded and a correlation was found between Sn-Me and finger length.
PURPOSE: Declining energy and increasing fatigue, common in older age, predict neurodegenerative conditions, but their neural substrates are not known. We examined brain resting state connectivity in relation to declining self-reported energy levels (SEL) and occurrence of fatigue over time.
METHODS: We examined resting-state functional MRI in 272 community dwelling older adults participating in the Health Aging and Body Composition Study (mean age 83 years; 57.4 % female; 40.8 % Black) with measures of fatigue and SEL collected at regular intervals over the prior ten years. Functional connectivity (FC) between cortex and striatum was examined separately for sensorimotor, executive, and limbic functional subregions. Logistic regression tested the association of FC in each network with prior fatigue state (reporting fatigue at least once or never reporting fatigue), and with SEL decline (divided into stable or declining SEL groups) and adjusted for demographic, physical function, mood, cognition, and comorbidities.
RESULTS: Higher cortico-striatal FC in the right limbic network was associated with lower odds of reporting fatigue (better) at least once during the study period (adjusted odds ratio [95 % confidence interval], p-value: (0.747 [0.582, 0.955], 0.020), independent of SEL. Higher cortico-striatal FC in the right executive network was associated with higher odds of declining SEL (worse) during the study period (adjusted odds ratio [95 % confidence interval], p-value: (1.31 [1.01, 1.69], 0.041), independent of fatigue. Associations with other networks were not significant.
CONCLUSIONS: In this cohort of older adults, the cortico-striatal functional connectivity of declining SEL appears distinct from that underlying fatigue. Studies to further assess the neural correlates of energy and fatigue, and their independent contribution to neurodegenerative conditions are warranted.
The procedure of this protocol was performed by a placebo coil. Each session lasted 40 s and consisted of burst of 3 pulses delivered at 50 Hz, with bursts being repeated every 200 ms (at 5 Hz) for a total of 600 pulses. No actual magnetic stimulation was applied on the head of the volunteers. MRI dataset should be acquired before the first sham TBS session and after the last sham TBS session.
Chronic migraine (CM) is a disabling disease that causes serious physical and emotional consequences. Previous studies had suggested the efficacy of stellate ganglion block (SGB) with lidocaine in the treatment of CM. However, the side effects related to repeated procedures limit its applications. Platelet-rich plasma (PRP) as an intervention treatment for chronic pain, has shown promising results to alleviate headache within the distribution range of the greater occipital nerve after trauma. So far, there has not been any report on PRP combined with lidocaine acting on SGB for CM. the investigators will conduct this multicenter, prospective, observational, propensity score matching, cohort, and assessor-blinded study to evaluate the efficacy and safety of lidocaine combined PRP acting on SGB versus lidocaine alone acting on SGB in patients with CM
This project is a retrospective clinical study. from 2019 to 2022, the DICOM format images and basic information of imaging X ray, CT, and MR of outpatient and inpatients suspected of low back and in the Fifth Affiliated Hospital of Sun Yat sen University were collected. Get DICOM image mode, and the information section will export the data after the OA batch is successfully submitted; Basic patient information is collected from inpatient medical history. 700 patients are planned to be included. Those projects are randomly divided into training set, verification set and test set according to the ratio of 7:1.5:1.5 for automatic diagnosis of computer in-depth learning model to test the stability and reliability of the model. In 700 projects, two junior doctors and two senior doctors with ten years of film reading experience respectively took grading readings of joint stenosis, hypertrophy, osteophyte, articular surface erosion and subchondral cyst. The inconsistent results in the junior doctors group were jointly decided by the two doctors. The reference standard group was decided by the senior doctors group. By comparing the diagnosis results of clinicians and models, To evaluate the performance and clinical feasibility of the deep learning model for automatic diagnosis of lumbar facet degeneration.Compare the results of doctor's judgment and model prediction, and statistically analyze the performance of automatic diagnosis of the model. Performance evaluation indicators include accuracy, sensitivity, specificity, accuracy, recall, F1 value and AUC value. F1 value and AUC value are the main indicators for comprehensive evaluation of model performance. The higher F1 value and AUC value, the stronger the model performance.