anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". Despite significant advances in genomic sequencing technologies, more than half of the patients with suspected Mendelian disorders remain undiagnosed. In response, IRDiRC proposes the establishment of "a globally coordinated diagnostic and research pipeline". To help facilitate this, IRDiRC formed the Task Force on Integrating New Technologies for Rare Disease Diagnosis. This multi-stakeholder Task Force aims to provide an overview of the current state of innovative diagnostic technologies for clinicians and researchers, focusing on the patient's diagnostic journey. Herein, we provide an overview of a broad spectrum of emerging diagnostic technologies involving genomics, epigenomics and multi-omics, functional testing and model systems, data sharing, bioinformatics, and Artificial Intelligence (AI), highlighting their advantages, limitations, and the current state of clinical adaption. We provide expert recommendations outlining the stepwise application of these innovative technologies in the diagnostic pathways while considering global differences in accessibility. The importance of FAIR (Findability, Accessibility, Interoperability, and Reusability) and CARE (Collective benefit, Authority to control, Responsibility, and Ethics) data management is emphasized, along with the need for enhanced and continuing education in medical genomics. We provide a perspective on future technological developments in genome diagnostics and their integration into clinical practice. Lastly, we summarize the challenges related to genomic diversity and accessibility, highlighting the significance of innovative diagnostic technologies, global collaboration, and equitable access to diagnosis and treatment for people living with rare disease.
OBJECTIVES: To develop a three-stage convolutional neural network (CNN) approach to segment anatomical structures, classify the presence of lumbar spinal stenosis (LSS) for all 3 stenosis types: central, lateral recess and foraminal and assess its severity on spine MRI and to demonstrate its efficacy as an accurate and consistent diagnostic tool.
METHODS: The three-stage model was trained on 1635 annotated lumbar spine MRI studies consisting of T2-weighted sagittal and axial planes at each vertebral level. Accuracy of the model was evaluated on an external validation set of 150 MRI studies graded on a scale of absent, mild, moderate or severe by a panel of 7 radiologists. The reference standard for all types was determined by majority voting and in case of disagreement, adjudicated by an external radiologist. The radiologists' diagnoses were then compared to the diagnoses of the model.
RESULTS: The model showed comparable performance to the radiologist average both in terms of the determination of presence/absence of LSS as well as severity classification, for all 3 stenosis types. In the case of central canal stenosis, the sensitivity, specificity and AUROC of the CNN were (0.971, 0.864, 0.963) for binary (presence/absence) classification compared to the radiologist average of (0.786, 0.899, 0.842). For lateral recess stenosis, the sensitivity, specificity and AUROC of the CNN were (0.853, 0.787, 0.907) compared to the radiologist average of (0.713, 0.898, 805). For foraminal stenosis, the sensitivity, specificity and AUROC of the CNN were (0.942, 0.844, 0.950) compared to the radiologist average of (0.879, 0.877, 0.878). Multi-class severity classifications showed similarly comparable statistics.
CONCLUSIONS: The CNN showed comparable performance to radiologist subspecialists for the detection and classification of LSS. The integration of neural network models in the detection of LSS could bring higher accuracy, efficiency, consistency, and post-hoc interpretability in diagnostic practices.
The purpose of the present invention is to enable the sterilization using plasma to be achieved even in a location where no plasma-generating device is set up. An active species generated with plasma (PM) is brought into contact with a liquid (ML) to diffuse the active species in the liquid (ML), thereby preparing a plasma treatment solution (MLp). The plasma treatment solution (MLp) is applied to a subject to sterilize the subject. The temperature of the plasma treatment solution (MLp) is held at 10˚C or lower. Alternatively, the plasma treatment solution (MLp) is refrigerated and is then stored in the form of a frozen body (MS). The frozen body (MS) is restored into the original liquid plasma treatment solution by thawing, and is then applied to a subject.
The invention discloses a method for making a dry age-related macular degeneration disease model on a primate, namely applying sodium iodate onto the primate with a carotid artery injection method. The method is simple and easy, high in success rate and good in repeatability. The model made with the method is stable. The amount of sodium iodate needed is small, injury of large doses of sodium iodate to the whole body of the animal is avoided, and the animal can live for a long time so that follow-up tests can be made possible. A model of any one side or a model of double sides can be made as needed. When the one-side model is made, a lateral eye can not be hurt at all, and normal living vision of the animal is guaranteed. Comparison of two lateral eyes of one animal can be conducted to provide credibility for the test, and the number of animals needed for the test is reduced. The method provides a sound tool for the dry age-related macular degeneration research and has great significance for the pathological physiology research and treatment research of the disease.
The last decade has brought tremendous interest in the problem of cardiogenic shock. However, the mortality rate of this syndrome approaches 50%, and other than prompt myocardial revascularization, there have been no treatments proven to improve the survival of these patients. The bulk of studies have been in patients with acute myocardial infarction, and there is little evidence to guide the clinician in those patients with heart failure cardiogenic shock (HF-CS). An International Society for Heart and Lung Transplant consensus conference was organized to better define, diagnose, and manage HF-CS. There were 54 participants (advanced heart failure and interventional cardiologists, cardiothoracic surgeons, critical care cardiologists, intensivists, pharmacists, and allied health professionals) with vast clinical and published experience in CS, representing 42 centers worldwide. This consensus report summarizes the results of a premeeting survey answered by participants and the breakout sessions where predefined clinical issues were discussed to achieve consensus in the absence of robust data. Key issues discussed include systems for CS management, including the "hub-and-spoke" model vs a tier-based network, minimum levels of data to communicate when considering transfer, disciplines that should be involved in a "shock team," goals for mechanical circulatory support device selection, and optimal flow on such devices. Overall, the document provides expert consensus on some important issues facing practitioners managing HF-CS. It is hoped that this will clarify areas where consensus has been reached and stimulate future research and registries to provide insight regarding other crucial knowledge gaps.
UNLABELLED: This study investigates the relationship between 18F-fluorodeoxyglucose ([18F]FDG) positron emission tomography/computed tomography (PET/CT) metabolic parameters, clinicopathological characteristics, and sarcopenia in patients with pancreatic ductal adenocarcinoma (PDAC) and evaluates their prognostic roles.
MATERIAL AND METHODS: The primary tumor's maximum standard uptake (SUVmax), metabolic tumor volume (MTV), and total lesion glycolysis (TLG) values, as well as clinicopathological factors, were evaluated retrospectively. Computed tomography (CT) was used to assess the skeletal muscle index (SMI). Sarcopenia was defined based on SMI calculated at the third lumbar vertebra (L3). SMI cut-off values ​​for sarcopenia were accepted as 44.77 cm2/m2 for men and 32.50 cm2/m2 for women. The primary endpoint was the overall survival (OS). OS data were analyzed by the Kaplan-Meier method and compared using the log-rank test. To identify predictive factors for sarcopenia, multivariable logistic regression was used following univariable logistic regression. Cox proportional hazards regression analyses were used to find predictors of OS.
RESULTS: Of the 86 patients included in the study, 37 (43%) were diagnosed with sarcopenia. Compared with non-sarcopenic patients, sarcopenia was observed in older patients (P=0,028) and patients with lower body mass index (BMI) (p=0,001). Age and BMI independently predicted sarcopenia. Univariate analysis identified sarcopenia, advanced stage, and higher primary tumor TLG as significant predictors of overall survival. Multivariate Cox regression analysis revealed that the advanced tumor stage (p=0.017) and higher TLG (p=0,042) independently predicted OS. The median OS was 9.4 months in non-sarcopenic patients and 5.0 months in sarcopenic patients (p=0,021).
CONCLUSION: In this study cohort, advanced-stage disease and higher primary tumor TLG were identified as independent predictors of OS in patients with PDAC. Additionally, we emphasize the importance of incorporating [18F]FDG PET/CT-derived sarcopenia assessments into the prognostic evaluation and clinical management of PDAC patients. While sarcopenia was associated with shorter OS in univariate analysis, it was not an independent predictor in multivariate analysis.
Here, we report an individual, eventually diagnosed with HMG-CoA synthase deficiency, who presented with a cyclic vomiting phenotype. HMG-CoA synthase deficiency is a rare disorder affecting ketone body synthesis in which affected individuals typically present at a young age with hypoketotic hypoglycemia, lethargy, encephalopathy, and hepatomegaly, usually triggered by catabolism (e.g., infection or prolonged fasting). This individual presented with recurrent episodes of vomiting and lethargy, often associated with hypoglycemia or hyperglycemia, at 3 years of age. Metabolic labs revealed nonspecific abnormalities in her urine organic acids (showing mild elevation of dicarboxylic acids with relatively low excretion of ketones) and a normal acylcarnitine profile. Given her clinical presentation, as well as a normal upper gastrointestinal series, esophagogastroduodenoscopy with biopsies, and abdominal ultrasound, she was diagnosed with cyclic vomiting syndrome at 3 years of age. Molecular testing completed at 7 years of age revealed a previously reported pathogenic sequence variant (c.1016+1G>A) and a novel likely pathogenic deletion (1.57 kB deletion, including exon 1) within HMGCS2 consistent with HMG-CoA synthase deficiency. This individual's presentation, mimicking cyclic vomiting syndrome, widens the clinical spectrum of HMG-CoA synthase deficiency. In addition, this case highlights the importance of molecular genetic testing in such presentations, as this rare disorder lacks specific metabolic markers.
<P>PROBLEM TO BE SOLVED: To accurately judge whether or not all respective medical images are arranged when transferring the plurality of medical images.  <P>SOLUTION: A patient is set to the bed of a CT apparatus and photographing is started. Tomographic images as the medical images are prepared on the basis of acquired projection data. To the prepared tomographic images, photographing numbers which are serial numbers corresponding to a photographing order are recorded as metadata. Whether or not the prepared tomographic image is the tomographic image photographed last is judged. In the case that it is not the last image, "0" is set to a final image flag and it is transferred to an image server. On the other hand, in the case that it is the last image, "1" is set to the final image flag and it is transferred to the image server. The image server judges whether or not the plurality of tomographic images are all arranged on the basis of the photographing numbers and the final image flag.  <P>COPYRIGHT: (C)2008,JPO&INPIT
An artificial intelligence (AI) agent interacts with patients via a user interface presented on a computing device. The AI agent may be trained by generating, based on session logs of a cohort of subjects interacting with the user interface, one or more training datasets comprising data on user interactions with the user interface by subjects in the cohort, and data based on health records of the subjects in the cohort of subjects. Machine-learning techniques may be applied to the training datasets to train the AI agent. Based on interactions of a patient with the AI agent, the AI agent may generate a recommendation for a medical screening, a medical procedure, etc. The recommendation may additionally be based on data in an electronic health record of the patient. Data on interactions with additional patients may be used to update models employed through the AI agent.
INTRODUCTION: cervical cancer is a significant health challenge in Kenya and sub-Saharan Africa, with high mortality linked to late presentation and low awareness. Despite its prevalence, preventive interventions like human papillomavirus (HPV) vaccination face low utilization. Religious leaders play a pivotal role in influencing health decisions, yet their attitudes toward HPV vaccination remain understudied. Therefore, this study aims to determine religious leaders' willingness to promote HPV vaccine uptake in Mavoko Sub-County, Machakos County, Kenya.
METHODS: a cross-sectional study involving 198 religious leaders chosen through systematic random sampling method was done in the month of December 2023 in Machakos County, Kenya. Data on socio-demographics and attitudes towards HPV vaccination were collected using structured, self-administered questionnaires. Attitudes were gauged on 11 statements. Analysis was performed using IBM SPSS 22.0, employing descriptive statistics and Chi-square tests to assess associations, with significance set at p < 0.05. Results were visually presented using tables, charts and graphs.
RESULTS: the study had a 96.6% response rate. Majority were male (51.5%), Protestant Christians (48%), and pastors (29.8%). Most participants had positive attitudes towards the HPV vaccine, with no significant socio-demographic associations found.
CONCLUSION: the study reveals positive attitudes among religious leaders towards promoting HPV vaccine uptake among their congregants. Despite some concerns and misconceptions, the majority of participants expressed willingness to advocate for vaccination.
Chronic Cough participants in Sequence B received a single dose of gefapixant 100 mg in treatment Period 1 then a single dose of placebo in treatment Period 2. There was a minimum 48-hr washout between Periods 1 \& 2.
Approximately 45 subjects with COPD will participate in the focus group interviews for item identification. The group may contain subjects who are functionally illiterate and at least one third women will be recruited.
Although rare, sensitivity to sodium sulfacetamide may occur. Therefore, caution and careful supervision should be observed when prescribing this drug for patients who may be prone to hypersensitivity to topical sulfonamides. Systemic toxic reactions such as agranulocytosis, acute hemolytic anemia, purpura hemorrhagica, drug fever, jaundice and contact dermatitis indicate hypersensitivity to sulfonamides. Particular caution should be employed if areas of denuded or abraded skin are involved.  
Sulfonamides are known to cause Stevens-Johnson syndrome in hypersensitive individuals. Stevens-Johnson syndrome also has been reported following the use of sodium sulfacetamide topically. Cases of drug induced systemic lupus erythematosus from topical sulfacetamide also have been reported. In one of these cases, there was a fatal outcome. KEEP OUT OF REACH OF CHILDREN.
BACKGROUND: Intracerebral hemorrhage (ICH) secondary injury is serious and affects patient's prognosis. The Zhenzhu Pills used to treat subacute ICH in Tibet has shown to have a certain curative effect. Network pharmacology and molecular docking technology are employed to explore the potential mechanism of Zhenzhu Pills. The components and potential targets of Zhenzhu Pills were screened from the Traditional Chinese Medicine Systems Pharmacology database. The Gene Expression Omnibus Series 24265 was used to screen differentially expressed genes between perihematomal tissue and normal brain.
METHODS: The herbs-components-targets network was established, with weighted eigenvalue to identify the core components and targets of Zhenzhu Pills treatment of ICH secondary injury. Targets' bioinformatics enrichment was proceeded by gene ontology and Kyoto Encyclopedia of Genes and Genome (KEGG) pathway analysis. Finally, molecular docking was used to identify the hydrogen bonding activity between the key components and action targets.
RESULTS: Five herbal drugs were screened from Traditional Chinese Medicine Systems Pharmacology database, with a total of 48 components and 234 targets. The Gene Expression Omnibus Series 24265 dataset was evaluated and 920 differentially expressed genes were identified. A total of 29 intersection targets of Zhenzhu Pills were explored in the treatment of ICH secondary injury. Drugs-components-targets network analysis showed that the pivotal targets were prostaglandin G/H synthase 2, interleukin 6, heme oxygenase-1, vascular endothelial growth factor, and vascular cell adhesion molecule 1, and the core components were quercetin, luteolin, and kaempferol. Gene ontology and KEGG pathway enrichment analysis showed that biological processes such as cell chemotaxis, wound healing, leukocyte migration, and regulation of body fluid levels played an important role in the secondary injury of ICH. The results of KEGG pathway analysis were mainly related to advanced glycation end products-receptor for advanced glycation end products signal pathway and tumor necrosis factor signal pathway. Molecular docking of 3 flavonoids with 5 core targets with the results also showed active hydrogen bonding.
CONCLUSIONS: This study provides insights into the potential mechanisms of Zhenzhu Pills in the treatment of secondary injuries resulting from ICH and highlights specific components, targets, and molecular pathways involved in this therapeutic effect. These possible therapeutic mechanisms include inhibiting inflammation, edema, oxidative stress, and so on.
The investigators propose a radical new multidisciplinary approach to navigation training in blindness and visual impairment. Successful navigation requires the development of an accurate and flexible mental, or cognitive, map of the navigational space and of the route trajectory required to travel from the current to the target location. The Cognitive-Kinesthetic (C-K) Rehabilitation Training that the PI has developed in the preceding period utilizes a unique form of blind memory-guided drawing to develop cognitive mapping to a high level of proficiency. Particular reliance must be placed on such mental maps (supported only by tactile and auditory inputs), and on the ability to use them effectively for spatiomotor control, when vision with its built-in spatial functionality is lost. There is, however, a fundamental gap in the practice of Orientation and Mobility (O\&M), which is the lack of a specific emphasis on enhancement of these cognitive roots of spatiomotor activity, despite their known importance for navigation in the visually impaired.

The investigators therefore propose a rigorous multidisciplinary approach to this issue, which lies at the intersection of the fields of spatiomotor rehabilitation, blindness assessment technologies, and brain function, each a focus of one Specific Aim. To train the spatial cognition abilities underlying successful navigation, the current proposal aims to translate the power of the C-K Rehabilitation Training to the domain of navigation. The blind and visually impaired trainees will quickly learn how to generate precise and stable cognitive maps of haptically explored raised-line images or tactile maps, and how to use the formed cognitive maps to confidently guide both drawing 'hand navigation' on a map-scale, and whole-body blind navigation on the macro-scale. Once translated to navigation, the preliminary data show that this efficient and enjoyable training will rapidly and sustainably enhance spatial cognition functions both for improved navigation performance and for enhancement of more general spatial cognitive skills. Beyond its practical advantages, the rapid and effective training protocol will also serve as an efficient tool to drive and study training-based neuroplasticity mechanisms through a comprehensive whole-brain multimodal brain imaging platform.
BACKGROUND: This study was designed and implemented to investigate the addition of dexmedetomidine to Serratus Anterior Plane Block (SAP) with ropivacaine in reducing pain in patients undergoing post-thoracotomy surgery.
METHODS: This study included patients classified as American Society of Anesthesiology (ASA) Physical Status II, with a body mass index (BMI) under 40, who were undergoing thoracotomy at Imam Khomeini Hospital in Ahvaz. The subjects were randomly divided into two groups using a randomized controlled trial design. After surgery, in the recovery room, SAP was performed for patients with ropivacaine (0.4 ml/kg of 0.2% ropivacaine solution) (group R) and ropivacaine plus dexmedetomidine (0.5 μg/kg) (group RD). Pain (with verbal rating scale, VNRS), blood pressure (systolic, diastolic, and mean arterial pressure (MAP)), heart rate (HR), and blood oxygen saturation (O2 sat) were measured and recorded before the intervention, and 1, 6, 12, 24, and 48 h after the intervention.
RESULTS: Finally, 74 patients were included in this study. Both groups exhibited significant pain reduction at one hour, with sustained pain relief observed in the RD group at 6, 12, and 24 h (P < 0.001). The RD group also showed having lower values HR and MAP at 6 and 12 h (P < 0.001). Patients in the RD group received painkillers faster (P = 0.005) and required lower total narcotic usage (P < 0.0001). Two RD group patients experienced transient bradycardia, which resolved without treatment.
CONCLUSION: The findings of this study show that SAP block with dexmedetomidine is an effective and safe drug along with ropivacaine as a nerve-blocking agent in thoracotomy candidates.
BACKGROUND: A 60-year-old female underwent proximal tibial autograft harvest for a Cotton osteotomy. Her postoperative course was complicated by psychogenic non-epileptic seizure (PNES) episodes leading to unintentional weightbearing. Knee radiographs at 6 weeks post-procedure demonstrated a displaced proximal tibia fracture through the autograft harvest site. Further clinical review revealed metabolic derangements consistent with secondary hyperparathyroidism. Initial nonoperative treatment led to atrophic varus nonunion requiring definitive treatment with total knee arthroplasty with revision components.
CONCLUSION: This case describes a rare complication of proximal tibial autograft harvest and highlights the importance of preoperative metabolic workup and bone health optimization.Level of Evidence: IV.