anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
Since its initial identification, the Forkhead Box P2 gene (FOXP2) has maintained its singular status as the archetypal monogenic determinant implicated in Mendelian forms of human speech and language impairments. Despite the passage of two decades subsequent to its discovery, extant literature remains disproportionately sparse with regard to case-specific instances and loci of mutational perturbations. The objective of the current investigation centers on furnishing an enriched delineation of both its clinical manifestations and its mutational heterogeneity. Clinical phenotypes and peripheral blood samples were assiduously amassed from familial subjects. Whole-exome sequencing and Sanger sequencing methodologies were deployed for the unambiguous identification of potential genetic variants and for corroborating their co-segregation within the family pedigree. An exhaustive review of published literature focusing on patients manifesting speech and language disorders consequent to FOXP2 genetic anomalies was also undertaken. The investigation yielded the identification of a novel heterozygous variant, c.661del (p.L221Ffs*41), localized within the FOXP2 gene in the proband, an inheritance from his symptomatic mother. The proband presented with an array of symptoms, encompassing dysarthric speech, deficits in instruction comprehension, and communicative impediments. In comparison, the mother exhibited attenuated symptoms, including rudimentary verbalization capabilities punctuated by pronounced stuttering and dysarthria. A comprehensive analysis of articles archived in the Human Gene Mutation Database (HGMD) classified under "DM" disclosed the existence of 74 patients inclusive of the subjects under current examination, sub-divided into 19 patients with null variants, 5 patients with missense variants, and 50 patients with gross deletions or complex genomic rearrangements. A conspicuous predominance of delayed speech, impoverished current verbal abilities, verbal comprehension deficits, and learning difficulties were observed in patients harboring null or missense FOXP2 variants, as compared to their counterparts with gross deletions or complex rearrangements. Developmental delays, hypotonia, and craniofacial aberrations were exclusive to the latter cohort. The elucidated findings augment the existing corpus of knowledge on the genetic architecture influencing both the proband and his mother within this specified familial context. Of critical importance, these discoveries furnish a robust molecular framework conducive to the prenatal diagnostic evaluations of prospective progeny within this familial lineage.
This cohort will comprise subjects recruited from 1st November 2023 to 21st December 2023 and followed from 22nd December 2023 to 30th April 2024 and subjects recruited from 01st November 2024 to 21st December 2024 and followed from 22nd Dec 2024 to 30th April 2025. During the follow-up period, the subjects will be asked to report respiratory tract infections to the investigators (phone calls or study visit).
Advances in echocardiography and, in particular, the development of three-dimensional echocardiography have allowed a more accurate analysis of the morphology of the tricuspid valve and a detailed understanding of the mechanisms underlying its insufficiency. From a clinical point of view, ITF is divided into a primary form, less frequent (8-10%), caused by primary alterations of the tricuspid valve apparatus, acquired or congenital, and in a "functional" form, the most frequent, conventionally associated in most cases with coexisting pathologies of the left heart or primitive pathologies of the right heart. More recently, long-lasting persistent atrial fibrillation (AF) has been associated with the development of ITF in the presence of structurally normal valve leaflets, preserved right ventricular size and function, and right atrial dilatation. This form of ITF, defined as "atrial functional", could benefit from a different therapeutic management compared to the classic form, more commonly caused by right ventricular dilatation and dysfunction ("ventricular functional" IT). However, not all patients with AF and tricuspid annulus dilatation develop valvular insufficiency and, on the other hand, with the same valvular annulus dilatation and right atrial size, the prevalence of severe IT forms is extremely variable.

This could depend on different adaptive mechanisms implemented by the valve leaflet tissue that lead to their growth or not in response to atrial remodeling and valve annulus dilatation, representing a key factor in the development and progression of the disease. Atriogenic ITF. If confirmed, these observations could lead to a better prognostic classification and different therapeutic perspectives for patients with AF at risk of developing forms of severe ITF and congestive heart failure.
FIELD: medicine.SUBSTANCE: invention refers to medicine, namely to obstetrics-gynaecology and anaesthesiology, and can be used for labour pain anaesthesia. That is ensured by epidural analgesia with local anaesthetic introduction. Local anaesthetic is represented by levobupivacaine in concentration of 0.075 %. In the presence of regular labour, a puncture and catheterisation of the epidural space is performed at the level of L3-L4/L4-L5, a test dose of the solution of lidocaine hydrochloride 2 % - 3.0 is introduced. After 5 minutes, an anaesthetic is induced by administering levobupivacaine 0.075 % - 10.0 ml. In 15 minutes with insufficient anaesthesia, the VAS score >40 mm additionally involves levobupivacaine 0.075% - 10.0 ml. If an analgesic effect is achieved, the infusion pump Mini Rythmic Evolution Micrel Medical Devices SA is connected in 30 minutes with a program of intermittent administration of epidural boluses of levobupivacaine 6.0 ml every 30 minutes in a combination with patient-controlled epidural analgesia in bolus anaesthetic - 6.0 ml, lockout interval - 30 minutes. Programmed intermittent epidural boluses are introduced in the first and second delivery periods, the introduction is stopped after the delivery.EFFECT: method provides pronounced analgesic effect in the absence of development of the motor block, negative effect on the dynamics of labour, foetus and newborn's condition, reduced cases of breakthrough pain, increased satisfaction of women in labour with the analgesia, reduced frequency of instrumental delivery due to prevention of motor unit development.1 cl, 1 ex
Rheumatoid arthritis (RA) is a chronic disabling disease that affects nearly 1% of the U. S. population \[1\]. The illness causes destruction of joint cartilage and erosion of adjacent bone, leading to joint replacement as well as extra-articular disease including cardiopulmonary manifestations, vasculitis, gastrointestinal and infectious complications \[2\]. Many patients with RA over time suffer progressive disability \[3, 4\], pain \[5\], work loss \[3, 6\], substantial health care costs \[7\], and premature mortality \[8\]. The current treatment of RA results in only modest improvements in functional status and many patients progress to chronic disability. Treatment is focused on ameliorating symptoms and halting disease progression as early as possible to prevent joint damage and functional decline.

Research has shown that while patient response to different medications may vary, those with chronic illness universally require social support and human empathy to achieve the best physical and emotional outcomes. From the 2006 PACO focus groups, we learned that RA patients' greatest concern was social isolation, that almost all had never talked with another person with RA, and that they feel alone dealing with the challenges of the disease. Psychosocial support is a seminal aspect of disease management since interpersonal relationships are often affected by the fatigue and physical disability of the disease and self-efficacy by the resulting loss of independence. The purpose of this study is to further patient care by providing social support services to better arthritis outcomes and patient satisfaction. In this pilot initiative called PARASS Patient-to-Patient Connection, patients will be able to connect with fellow patients who have similar concerns and fears and can find empathy and understanding based on personal experience. Buddy systems matching patients with similar needs or interests have been successful in addiction rehabilitation and oncology treatment, and group sessions have long been used as teaching and support tools in diabetes management. Rheumatology, however, has to date focused largely on providing patients with tools to improve the more physical manifestations of pain, swelling and fatigue. Furthermore, efforts to enhance self efficacy through leader initiated self help courses have not produced expected improvements in clinical outcomes. The purpose of this initiative is to develop a novel method of patient empowerment using peer support in order to better arthritis outcomes and patient satisfaction. To our knowledge, no rheumatology clinics in the United States have developed or instituted organized programs for peer social support or group informational discussion.

The goal of PARASS is to develop a network of increased social support for Rheumatoid Arthritis (RA) patients that will improve patient outcomes and further promote understanding of RA among physicians and patients in the clinic community. This will be accomplished with the development and implementation of a "buddy pairing" program called Patient-to-Patient Connection.
STIOLTO RESPIMAT contains both tiotropium bromide and olodaterol; therefore, the risks associated with overdosage for the individual components described below apply to STIOLTO RESPIMAT.

Tiotropium

High doses of tiotropium may lead to anticholinergic signs and symptoms. However, there were no systemic anticholinergic adverse effects following a single inhaled dose of up to 282 mcg tiotropium in 6 healthy volunteers. In a study of 12 healthy volunteers, bilateral conjunctivitis and dry mouth were seen following repeated once-daily inhalation of 141 mcg of tiotropium. Dry mouth/throat and dry nasal mucosa occurred in a dose-dependent [10-40 mcg daily] manner, were observed following 14-day dosing of up to 40 mcg tiotropium bromide inhalation solution in healthy subjects.

Olodaterol

The expected signs and symptoms with overdosage of olodaterol are those of excessive beta-adrenergic stimulation and occurrence or exaggeration of any of the signs and symptoms, e.g., myocardial ischemia, angina pectoris, hypertension or hypotension, tachycardia, arrhythmias, palpitations, dizziness, nervousness, insomnia, anxiety, headache, tremor, dry mouth, muscle spasms, nausea, fatigue, malaise, hypokalemia, hyperglycemia, and metabolic acidosis. As with all inhaled sympathomimetic medications, cardiac arrest and even death may be associated with an overdose of olodaterol.

Treatment of overdosage consists of discontinuation of STIOLTO RESPIMAT together with institution of appropriate symptomatic and supportive therapy. The judicious use of a cardioselective beta-receptor blocker may be considered, bearing in mind that such medication can produce bronchospasm. There is insufficient evidence to determine if dialysis is beneficial for overdosage of STIOLTO RESPIMAT. Cardiac monitoring is recommended in cases of overdosage.
A topical composition to protect against hair loss comprising of Sodium diisopropyl naphthalene sulfonate, Butylene glycol, Hampshire N-acyl LED3A, Hamposyl M-30, Hamposyl TC Glutamate. In a preferred embodiment, the composition contains the primary active ingredient sodium diisopropyl naphthalene sulfonate or alkyl naphthalene sulfonate and is commercially available from Cytec Industries under the product name of Aerosol OS Surfactant. The Aerosol OS Surfactant is in the chemical family of alkyl aryl sulfonate. In application as a scalp shampoo for follicle treatment the Aerosol OS Surfactant is an active ingredient of sulfur compounds with anti-inflammatory effects to protect against hair loss. The Aerosol OS can be comprised with any surfactant, chelate or inert carrier, etc. In particular, the composition unblocks the follicle, releases entrapped hair and oxidizes proteins into metabolism allowing the dermal papilla the movement to rise and decline during follicle assimilation.
PROBLEM TO BE SOLVED: To obtain both a drug granule which contains a readily water-soluble drug as an active ingredient at a high concentration, has excellent uniform content and stability and is capable of providing a pharmaceutical preparation having excellent drug release control in a smaller size than that of a conventional preparation and a coated granule using the same, to provide a method for producing the granules and to obtain a pharmaceutical preparation using the drug granule. SOLUTION: This method for manufacturing a drug granule comprises a granulation step of spraying a solution of the readily water-soluble drug on a crystal of the readily water-soluble drug. This drug granule is obtained by the method. This coated granule is obtained by coating the drug granule with a release control film-coating agent. This method for producing the coated granule is provided. This pharmaceutical preparation is obtained by using the drug granule.
Nearly 30 years later, veterans with Gulf War Illness (GWI) continue to suffer from this persistent and debilitating illness, which remains difficult to diagnose due to the heterogeneity of clinical presentation and the complexity of biological responses to hazardous chemicals to which GW veterans were exposed during the 1990-1991 Gulf War (GW). Brain imaging studies of veterans with GWI and pre-clinical animal studies of rodents with GWI show that impaired bioenergetics and inflammation can be attributed to the atrophy of the axonal white matter tracts that link the cortical gray matter regions, and the alterations of lipid/metabolite levels. The investigators recent work shows that disturbed lipid profiles in the brain and blood after GW pesticide exposure in rodents accompany neurobehavioral and bioenergetics deficits and inflammation. The mechanisms of neurotoxicity after pesticide exposure include increases in the inactivation of lipid metabolizing enzymes. This may consequently result in accumulation of lipids in the body compartments that limit their availability for use as energy substrates, contributing to bioenergetic impairments and inflammation. These metabolic changes have also been linked to individuals who possess the apolipoprotein E (APOE) ε4 allele, a risk factor of aging related cognitive decline and neurodegenerative conditions, such as Alzheimer's disease (AD). Several studies have shown a correlation between lipid transport deficits and presence of the ε4 allele. The identification of specific lipids/metabolites and the APOE ε4 allele as important biomarkers of GWI would serve to objectively assess the brain pathology of GWI and identify subgroups of GWI based on symptom patterns and GW exposures.
The present invention provides products and methods for modulating expression of a target gene in a cell. One such method includes introducing into the cell a polynucleotide that forms a duplex region with an mRNA transcribed from said target gene, where the duplex region comprises a mammalian miRNA target region. Another such method includes introducing into the cell an siRNA that forms a duplex region with an miRNA, or precursor thereof, where an mRNA transcribed from the target gene comprises a miRNA target region. In certain preferred embodiments, the methods further include measuring expression of the target gene. The methods are particularly useful for modulating ontogenesis, function, differentiation and/or viability of a mammalian cell. As such, the invention also provides methods for controlling ontogenesis of mammal, function of mammalian cell, differentiation of mammalian cell or viability of mammalian cell in the post-transcriptional phase by introducing into the cell a miRNA or a siRNA silencing precursor to the miRNA. The invention additionally provides polynucleotides, including vectors, useful in the method of the instant invention. The provided polynucleotides include a plasmid vector comprising a promoter and a polynucleotide sequence expressing miRNA or precursor to the miRNA. Also included is a plasmid vector comprising a promoter and a nucleotide sequence expressing siRNA silencing precursor to miRNA. In certain preferred embodiments, the mRNA is capable of forming a duplex region with an mRNA transcribed from a mammalian target gene.
Mortality disparities among persons with intellectual disability are important to guide health-care practices. The objective was to evaluate mortality patterns of persons with intellectual disability in a nationwide study from 1976 to 2020. This study establishes a Danish nationwide cohort of persons with intellectual disability and age- and sex-matched reference cohort through linkage between several registers. We established a cohort of 79,114 persons with intellectual disability. Standardized mortality ratios were increased for persons with intellectual disability, most pronounced among younger persons and among females. Life expectancies were markedly lower; among persons with intellectual disability 63.6 years among females and 59.8 years among males in 2016-2020 compared to 82.4 and 78.7 years among females and males in the reference cohort. Life expectancies decreased with severity of intellectual disability. This study reports the establishment of a nationwide Danish cohort of persons with intellectual disability.
This document discusses, among other things, systems and methods for delivering electrostimulation to specific tissue of a patient. An example of a system can receive a three-dimensional voxelized model representing a plurality of regions each specified as a target region or an avoidance region. The system includes control circuitry to determine a metric value using the voxelized model. The metric value indicates a clinical effect of electrostimulation on the plurality of regions according to a stimulation current and a current fractionalization. The control circuitry can determine a desired stimulation current that results in a first metric value satisfying a clinical effect condition. The system can generate a stimulation configuration including the desired stimulation current and the current fractionalization corresponding to the first metric value, and deliver tissue stimulation according to the stimulation configuration.
PURPOSE:To crush finely and uniformly a crude drug and manufacture an ointment by using said drug. CONSTITUTION:Liquid paraffin which is a softening agent component of an ointment is used as a dispersion medium, and said liquid paraffine of 100 pts.wt., a crude drug of powered gardenia (average grain diameter of 40-100mum) of 9 pts.wt. and pepper essence (alchohol solution) of 0.6 pts.wt., titanium oxide of 26 pts.wt. and rouge of 0.6 pts.wt. are blended altogether, and the blend is put into a ball mill provided with balls of zirconia ceramic and rotated at 80rpm for 16hours to prepare a paste-like mixture. The diameter of balls is 15mm, and the volume of balls to the volume 100 of ball mill is approximately 30 and the volume of the mixture is approximately 30. In that case, the deformation or wear of balls is not recognized. In said paste-like mixture, all the particles of powdered gradenia, titanium oxide and rouge are crushed finely into 30mum or less and dispersed uniformly into flowing paraffin. Said herb and a lipophilic adhesive mass are kneaded uniformly and filtered through a screen of 120 mesh to manufacture an ointment of good quality.
Technical Assistance (TA). Intervention: TA will be offered to the 4 teams randomized to the TA condition with automated surveillance reporting (ASR) and will receive the AKI Prevention Toolkit plus monthly technical calls independently and monthly ASR dashboard.
Associative memory refers to remembering the association between two items, such as a face and a name or a word in English and the same word in another language. It is not only important for learning, but it is also one of the first aspects of memory performance that is impacted by aging and by Alzheimer׳s disease. For decades, neuroscientists have investigated associative learning and memory and ways to accelerate and enhance associative learning and memory.

Transcranial Direct Current stimulation (tDCS) is a non-invasive and painless electrical stimulation technique that has demonstrated to accelerate learning and improve memory in some studies. To investigate whether it is possible to accelerate learning and improve associative memory using tDCS, the performance in a Verbal Paired-Associate memory task of 2 groups will be compared. The first group will get active tDCS during the verbal paired-associate learning task. The second group will get sham tDCS during the verbal paired-associate learning task.
BACKGROUND: Ovarian cancer has the highest mortality among gynecologic cancers, primarily because it typically is diagnosed at a late stage and because of the development of chemoresistance in recurrent disease. Improving outcomes in women with platinum-resistant ovarian cancer is a substantial unmet need. Activation of the glucocorticoid receptor (GR) by cortisol has been shown to suppress the apoptotic pathways used by cytotoxic agents, limiting their efficacy. Selective GR modulation may be able to counteract cortisol's antiapoptotic effects, enhancing chemotherapy's efficacy. A previous phase 2 study has shown that adding intermittently dosed relacorilant, a selective GR modulator, to nab-paclitaxel improved outcomes, including progression-free survival (PFS) and overall survival (OS), with minimal added toxicity, in women with recurrent platinum-resistant ovarian cancer. The ROSELLA study aims to confirm and expand on these findings in a larger population.
METHODS: ROSELLA is a phase 3, randomized, 2-arm, open-label, global multicenter study in women with recurrent, platinum-resistant, high-grade serous epithelial ovarian, primary peritoneal, or fallopian tube cancer. Eligible participants have received 1 to 3 lines of prior systemic anticancer therapy, including ≥1 prior line of platinum therapy and prior treatment with bevacizumab, with documented progressive disease or intolerance to the most recent therapy. There is no biomarker-based requirement for participant selection. Participants are randomized 1:1 to receive intermittently dosed relacorilant in combination with nab-paclitaxel or nab-paclitaxel monotherapy. The study's primary efficacy endpoint is PFS as assessed by blinded independent central review. Secondary efficacy endpoints include OS, investigator-assessed PFS, objective response rate, best overall response, duration of response, clinical benefit rate at 24 weeks, and cancer antigen 125 response. The study is also evaluating safety and patient-reported outcomes.
TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT05257408; European Union Drug Regulating Authorities Clinical Trials Database Identifier: 2022-000662-18.