anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
BACKGROUND: Hereditary hypophosphatemia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Here, we present a case of HHRH in a Chinese boy.
CASE PRESENTATION: We report a 11-year-old female proband, who was admitted to our hospital with bilateral genuvarum deformity and short stature. Computed Tomography (CT) showed kidney stones, blood tests showed hypophosphatemia, For a clear diagnosis, we employed high-throughput sequencing technology to screen for variants. Our gene sequencing approach encompassed whole exome sequencing, detection of exon and intron junction regions, and examination of a 20 bp region of adjacent introns. Flanking sequences are defined as ±50 bp upstream and downstream of the 5' and 3' ends of the coding region.The raw sequence data were compared to the known gene sequence data in publicly available sequence data bases using Burrows-Wheeler Aligner software (BWA, 0.7.12-r1039), and the pathogenic variant sites were annotated using Annovar. Subsequently, the suspected pathogenic variants were classified according to ACMG's gene variation classification system. Simultaneously, unreported or clinically ambiguous pathogenic variants were predicted and annotated based on population databases. Any suspected pathogenic variants identified through this analysis were then validated using Sanger sequencing technology. At last, the proband and her affected sister carried pathogenic homozygous variant in the geneSLC34A3(exon 13, c.1402C > T; p.R468W). Their parents were both heterozygous carriers of the variant. Genetic testing revealed that the patient has anLRP5(exon 18, c.3917C > T; p.A1306V) variant of Uncertain significance, which is a rare homozygous variant.
CONCLUSION: This case report aims to raise awareness of the presenting characteristics of HHRH. The paper describes a unique case involving variants in both theSLC34A3andLRP5genes, which are inherited in an autosomal recessive manner. This combination of gene variants has not been previously reported in the literature. It is uncertain whether the presence of these two mutated genes in the same individual will result in more severe clinical symptoms. This report shows that an accurate diagnosis is critical, and with early diagnosis and correct treatment, patients will have a better prognosis.
At least one embodiment is directed to a system for distracting bones of a muscular-skeletal system. The dynamic distractor ( 100 ) comprises at least one sensor ( 108, 110 ), a handle ( 112, 804 ), a lift mechanism ( 302 ), and one or more alignment aids ( 502, 802 ). The position and measurement sensors ( 108, 110 ) are in communication with the processing unit ( 406 ) to display, process, and store measured data. The process of distraction separates two components such as bones of the muscular-skeletal system. Dynamic distractor ( 100 ) can aid in the alignment of the skeletal system and to verify that alignment is correct. A surface or feature on a handle of dynamic distractor ( 100 ) has a relational position to one of the surfaces being distracted. The surface has an optimal alignment to a mechanical axis. An alignment aid ( 502, 802 ) is coupled to the surface or feature to measure alignment to the mechanical axis.
The video laryngoscope, compared to direct laryngoscopy, provides better visualization of the laryngeal and glottic structures, a higher success rate for intubation on the first attempt, and a lower incidence of complications such as mucosal injury, dental injury, and esophageal intubations. Despite the advantages offered by video laryngoscopy, its use is not widespread in developing countries due to high costs. For this reason, the ORION video laryngoscope was developed as a low-cost, reusable device that can undergo high-level disinfection. It is designed using additive manufacturing and meets the standards for biocompatibility, rigidity, and resistance. Additionally, it has undergone preclinical testing in simulation models where anesthesiologists have approved its use in real clinical scenarios. In this study, patients scheduled for elective surgery under general anesthesia without predictors of difficult airway will be included and randomized to be intubated with either the ORION video laryngoscope or the King Vision video laryngoscope. The study will compare the success of intubation on the first attempt, the time taken for intubation, the level of visualization of the glottic structures, and the associated complications between the two video laryngoscopes.
Images in the cardiac short axis will be obtained using a gradient recalled echo sequence, TR 2.3 msec/TE 1.1 msec, 80\*256 matrix, slice thickness 10 mm. Images will be obtained during power injection of 0.075 mmol/Kg of a conventional gadolinium based MR contrast agent at a rate of 5 mL/sec followed by a 15 mL saline flush into an antecubital vein. Perfusion imaging will be performed at stress and rest. Stress: Regadenoson 400 mcg will be administered IV bolus via an antecubital cannula. Immediately after injection, MR scanning will begin and contrast will be given. Rest: After 10 minutes, rest imaging will be performed identically, but without regadenoson injection. To identify late enhancement of myocardial tissue inversion recovery prepared images will be obtained.
A method is disclosed for reducing excitotoxic damage to neurons, which can occur as a result of stroke, cardiac arrest, or other events or conditions. This method involves administering an aminoglycoside that suppresses the flow of calcium ions into neurons through N-type calcium channels. To be effective for such use, an aminoglycoside must suppress N-channel activity at a potency greater than streptomycin.      Aminoglycosides which meet this criterion (which includes neomycin and Gentamicin) can suppress the depolarizing activation of neurons, which in turn controls the release of glutamate, a neurotransmitter that becomes an endogenous toxin under excitotoxic conditions. Numerous aminoglycosides were tested in in vitro screening tests using brain cell membrane fragments to evaluate N-channel blocking potency.      Aminoglycosides with the highest N-channel blocking potency were then tested using (1) in vitro tests on hippocampal brain tissue, to evaluate recovery of neuronal activity after a period of oxygen deprivation; (2) in vivo tests to evaluate the control of induced seizures in intact adult mammals: and (3) in vivo tests to evaluate the reduction of brain damage due to surgically-induced ischemia in intact adult mammals. The results showed that (1) aminoglycosides which are more potent than streptomycin in blocking N-channel ion flow are effective in reducing excitotoxic brain damage, without causing undesired side effects, and (2) the effectiveness of all BBB-permeable aminoglycosides tested to date in preventing excitotoxic brain damage is directly correlated with their potency in suppressing N-channel activity. Evaluation of chemical structures also indicates a correlation between the number of primary amino groups on an aminoglycoside, and its potency as an N-channel blocker and neuroprotective agent.
Intermittent application of High-frequency Oscillation (HFO) and Tracheal Gas Insufflation (TGI) according to pre-specified criteria described in the Detailed Description. HFO-TGI sessions are interspersed with lung protective conventional mechanical ventilation until the PaO2/FiO2 ratio stabilizes at \>150 mm Hg.
Sham treatment will consist of 6 seconds a minute for 30 minutes a day, 5 days a week for 4 weeks. Sham treatment mimicks same noise and sensation of active treatment but provides no treatment.
AIMS: Presence of family cases and multiple recurrences of pericarditis suggest the existence of a possible genetic background in at least 10% of cases. The aim of the present study is to describe the genetic landscape of a cohort of patients with multiple recurrences (at least two recurrences).
METHODS: Retrospective cohort study of consecutive adult patients referred for at least two episodes of recurrences in a tertiary referral centre. Genetic testing was performed by whole exome sequencing (WES).
RESULTS: Our cohort included 108 consecutive patients with recurrent pericarditis [median age 32 years, interquartile range (IQR) 18.5; 67.6% females, all Caucasian, idiopathic aetiology in 71.1%] with a median number of recurrences of 5 (IQR 2). Overall, 16 patients (14.8%) had variants in genes related to the inflammatory response. Eleven variants were located in genes already associated with recurrent pericarditis (NLRP3, TNFRSF1A and MEFV) and five in inflammation/immunodeficiency-related genes (IFIH1, NFKBIA, JAK1, NOD2 and ALPK1). Furthermore, we identified 10 patients with variants located in genes associated with conduction system-related diseases, and 22 variants in 21 patients with genes associated with heart structural-related diseases.
CONCLUSION: In this first observational study using WES to assess genetic variants in patients with multiple recurrences of pericarditis, about 15% of patients bore at least one variant that may be related to the disease. These findings highlight the importance of addressing the role of genetic predisposition in recurrent pericarditis. Moreover, 28.7% of patients carry variants in different cardiac genes, worthy of a deeper investigation.
The present invention provides nitrogen-containing heterocyclic compounds and pharmaceutically acceptable salts thereof which inhibit phosphorylation of PDGF receptor to hinder abnormal cell growth and cell wandering and thus are useful for the prevention or treatment of cell-proliferative diseases such as arteriosclerosis, vascular reobstruction, cancer and glomerulosclerosis. The compounds are represented by general formula (I):     (see Formula I) wherein V represents an oxygen atom or a sulfur atom;   W represents 1,4-piperazinediyl or 1,4-homopiperazinediyl in which carbons on the ring may be substituted by unsubstituted alkyl groups;   X represents a nitrogen atom or C-R9;  Y represents a nitrogen atom or C-R8;   Z represents a nitrogen atom or C-R7 (provided that at least one of X, Y and Z represents a nitrogen atom);   R1 represents a hydrogen atom, a substituted or unsubstituted alkyl group, a substituted or unsubstituted alicyclic alkyl group, etc.;   R2 represents a substituted alkyl group, a substituted or unsubstituted alicyclic alkyl group, etc.;   R3, R4, R5 and R6, which may be the same or different, each represents a hydrogen atom, a halogen atom, a substituted or unsubstituted alkyl group, a nitro group, a cyano group, -OR12, -NR15R16, etc.;   R7 represents a halogen atom, etc.;   R8 has the same significance as R7, and R9 represents a hydrogen atom or -COR41.
Participants will use HeartMath EmWave Pro for at least one 5-minute session daily, Monday through Friday. The control participants will use it daily only for weeks 7-12. The participants will also complete questionnaires at baseline, week 6, and week 12 about demographics, job satisfaction, and job performance. Participants' blood pressure and heart rate will be collected at those three time points. Additionally, information about participants' use of HeartMath EmWave Pro, sick days, and patient satisfaction will be collected after week 12.
Fine-tuning angiogenesis, the development of new blood vessels, is essential for maintaining a healthy circulatory and lymphatic system. The small glycoprotein vascular endothelial growth factors (VEGF) are the key mediators in this process, binding to their corresponding membrane-bound VEGF receptors (VEGFRs) to activate angiogenesis signaling pathways. These pathways are crucial throughout human life as they are involved in lymphatic and vascular endothelial cell permeability, migration, proliferation, and survival. Neovascularization, the formation of abnormal blood vessels, occurs when there is a dysregulation of angiogenesis and can result in debilitating disease. Hence, VEGFRs have been widely studied to understand their role in disease-causing angiogenesis. VEGFR1, also known as Fms-like tyrosine kinase-1 (FLT-1), is also found in a soluble form, soluble FLT-1 or sFLT-1, which is known to act as a VEGF neutralizer. It is incorporated into anti-VEGF therapy, designed to treat diseases caused by neovascularization. Here we review the journey of sFLT-1 discovery and delve into the alternative splicing mechanism that creates the soluble receptor, its prevalence in disease states, and its use in current and future potential therapies.
A terrible triad injury consists of posterior dislocation of the elbow associated with a radial head fracture and a coronoid fracture. This injury occurs during a fall onto an outstretched arm, and it presents a disruption of the bony and capsuloligamentous structures from the lateral side, which progresses anteriorly and medially.The primary goal of surgical treatment for terrible triad injury is to restore elbow function with. good stability. The current standard treatment involves internal fixation and reconstruction of the bony and ligamentous structures to allow early mobilization. Fixation or replacement of radial head fractures and lateral ligament reconstruction represent the main operative procedures. A biomechanical and clinical study showed that restoration of the coronoid process and anterior capsule is an important step for a stable elbow. old "terrible triad" of elbow with no operative history is difficult to treat. The elbow's functions and stabilization can be recovered by thorough elbow release, repair of coronoid process and anterior capsule, radial head fixation or replacment reconstruction or repaire of, lateral collateral ligament and reinsertion of the common extensor tendon, combined with hinged external fixator Although improved knowledge of this injury has yielded favourable clinical outcomes, complications continue to occur, including stiffness, recurrent subluxation or dislocation, heterotopic ossification, ulnar nerve neuropathy, and arthritis.The common causes of revision after terrible triad injury reconstruction are stiffness and recurrent instability, Stiffness and instability, among all these complications, are indeed the most recurring. A stiff or unstable elbow is very poorly tolerated because of the lack of compensatory motion in adjacent joints, So it's very important to detect causes and risk factors that leading to fail terrible triad reconstruction.
BACKGROUND: Relapsing-remitting multiple sclerosis (RRMS) is a most common form of multiple sclerosis in which periods of neurological worsening are followed by periods of clinical remission. RRMS relapses are caused by an acute autoimmune inflammatory process, which can occur in any area of the central nervous system. Although development of exacerbation cannot yet be accurately predicted, various external factors are known to affect its risk. These factors may trigger the pathological process through epigenetic mechanisms of gene expression regulation, first of all, through changes in DNA methylation.
METHODS: In the present work, we for the first time analyzed genome-wide DNA methylation patterns in CD4+ T lymphocytes and CD14+ monocytes of the same RRMS patients in relapse and remission. The effects of the differential methylation on gene expression were studied using qPCR.
RESULTS: We found 743 differentially methylated CpG positions (DMPs) in CD4+ cells and only 113 DMPs in CD14+ cells. They were mostly hypermethylated in RRMS relapse in both cell populations. However, the proportion of hypermethylated DMPs (as well as DMPs located within or in close proximity to CpG islands) was significantly higher in CD4+ T lymphocytes. In CD4+ and CD14+ cells we identified 469 and 67 DMP-containing genes, respectively; 25 of them were common for two cell populations. When we conducted a search for differentially methylated genomic regions (DMRs), we found a CD4+ specific DMR hypermethylated in RRMS relapse (adj. p = 0.03) within the imprinted GNAS locus. Total level of the protein-coding GNAS transcripts in CD4+ T cells decreased significantly in the row from healthy control to RRMS remission and then to RRMS relapse (adj. p = 3.1 × 10-7 and 0.011, respectively).
CONCLUSION: Our findings suggest that the epigenetic mechanism of DNA methylation in immune cells contributes to the development of RRMS relapse. Further studies are now required to validate these results and shed light on the molecular mechanisms underlying the observed GNAS methylation and expression changes.
Cosmetic product comprising a mechanical exfoliating agent and corresponding uses. Cosmetic product comprising a mechanical exfoliating agent composed of abrasive particles in suspension that are coated with a biocompatible metallic or ceramic material, preferably a material from the group consisting of titanium, zirconium, titanium nitride, zirconium nitride, titanium dioxide, zirconium dioxide, aluminum oxide and silicon oxide. The particles have a grain size between 30 microns and 1500 microns and are preferably a fe-based material. The biocompatible material forms a coating with a thickness between 0.1 and 100 microns. They are used for the preparation of a cosmetic product, for example as a skin exfoliant. (Machine-translation by Google Translate, not legally binding)
INTRODUCTION: Thyroid hormones (THs) are known to have various effects on the cardiovascular system. However, the impact of TH levels on preexisting cardiac diseases is still unclear. Pressure overload due to arterial hypertension or aortic stenosis and aging are major risk factors for the development of structural and functional abnormalities and subsequent heart failure. Here, we assessed the sensitivity to altered TH levels in aged mice with maladaptive cardiac hypertrophy and cardiac dysfunction induced by transverse aortic constriction (TAC).
METHODS: Mice at the age of 12 months underwent TAC and received T4 or anti-thyroid medication in drinking water over the course of 4 weeks after induction of left ventricular pressure overload.
RESULTS: T4 excess or deprivation in older mice had no or only very little impact on cardiac function (fractional shortening), cardiac remodeling (cardiac wall thickness, heart weight, cardiomyocyte size, apoptosis, and interstitial fibrosis), and mortality. This is surprising because T4 excess or deprivation had significantly changed the outcome after TAC in young 8-week-old mice. Comparing the gene expression of deiodinases (Dio) 2 and 3 and TH receptor alpha (TRα) 1 and the dominant-negative acting isoform TRα2 between young and aged mice revealed that aged mice exhibited a higher expression of TRα2 and Dio3, while expression of Dio2 was reduced compared with young mice. These changes in Dio2 and 3 expressions might lead to reduced TH availability in the hearts of 12-month-old mice accompanied by reduced TRα action due to higher TRα2.
DISCUSSION: In summary, our study shows that low and high TH availability have little impact on cardiac function and remodeling in older mice with preexisting pressure-induced cardiac damage. This observation seems to be the result of an altered expression of deiodinases and TRα isoforms, thus suggesting that even though cardiovascular risk is increasing with age, the response to TH stress may be dampened in certain conditions.
In this arm, those with normal-weight will be assigned. Each participant will be given 90 days of IFA supplement.
AIMS: This study aims to explore the presence of left ventricular (LV) and left atrial (LA) morphological and functional abnormalities in patients with Barlow's disease (BD) without significant mitral regurgitation (MR) and to investigate whether these abnormalities may predict MR progression.
METHODS AND RESULTS: Consecutive patients with BD were retrospectively identified from two tertiary centres; those with MR graded from trivial to mild-to-moderate were selected and matched with healthy controls in a 1:1 ratio. Conventional and speckle-tracking echocardiographic data were collected. The development of moderate-to-severe or greater MR was evaluated on follow-up echocardiograms. Patients with BD (n = 231) showed increased LV dimensions and indexed LV mass (LVMi) in comparison with controls (P < 0.001); LV remodelling worsened with higher MR severity and was accompanied by an increased prevalence of eccentric LV hypertrophy (eLVH). Moreover, BD patients had larger LA volumes and more impaired LA reservoir strain vs. controls (P < 0.001), while LV strain was similar between the two groups. Multivariable linear regression analyses in the overall population identified BD and MR grade as independent predictors of remodelling markers (LV dimensions, LVMi, and LA volume) and BD as independent correlate of LA strain. MR progression was observed in 51 BD subjects (out of 170 patients with available follow-up). On Cox regression analysis, age, eLVH, mild-to-moderate MR, and mitral annular disjunction (MAD) emerged as independent predictors of MR progression.
CONCLUSION: BD patients without significant MR show early LV and LA remodelling, together with reduced LA strain. MR progression was associated with eccentric LV remodelling, MAD, and MR severity.
A dental filling material comprising an inner core and outer layer of material disposed and surrounding the inner core, both the inner core and outer layer of material each containing a thermoplastic polymer. The thermoplastic polymer may be biodegradable. A bioactive substance may also be included in the filling material. The thermoplastic polymer acts as a matrix for the bioactive substance. The composition may include other polymeric resins, fillers, plasticizers and other additives typically used in dental materials. The filling material is used for the filing of root canals.
Participants received octreotide capsules orally twice a day for up to 13 months. Dosing started at 40 mg per day (20 in the morning + 20 in the evening) and increased to 60 mg per day (40 in the morning + 20 in the evening) or 80 mg per day (40 in the morning + 40 in the evening) if there was inadequate IGF-1 suppression.
A method of treating or preventing restenosis by administering to an individual an effective amount of an active compound which depletes and/or inhibits blood monocytes or macrophages thereby treating restenosis. A method of inhibiting the activity or production of cytokines or growth factors associated with vascular restenosis, by administering to an individual an effective amount of an active compound which depletes and/or inhibits blood monocytes or macrophages thereby treating restenosis. The cytokines and growth factors include, but are not limited to interleukin 1-.beta., matrix metalloproteinase-2, and platelet-derived growth factor .beta. (PDGF.beta.).  The active compound may be administered directly, encapsulated in a carrier particle, or in a particulate dosage form. The compound may be encapsulated, embedded or adsorbed within the particle, dispersed uniformly in the polymer matrix, adsorbed on the particle surface, or in combination of any of these forms. The particles include liposomes or inert polymeric particles, such as microcapsules, nanocapsules, nanoparticles, nanospheres, or microparticles.  The particulates include any suspended or dispersed form of the compound which is not encapsulated, entrapped, or adsorbed within a polymeric particle. The particulates include suspended or dispersed colloids, aggregates, flocculates, insoluble salts and insoluble complexes of the active compound. The compound includes any intra-cellular toxin which depletes and/or inhibits blood monocytes or macrophages, such as, for example, a bisphosphonate.
Group A will prescribe study participants in group 1 acetaminophen and ibuprofen alternating treatment every three hours. The dosage will be weight-based.