anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
Erythromelalgia (EM), is a familial pain syndrome characterized by episodic 'burning' pain, warmth, and erythema. EM is caused by monoallelic variants in SCN9A, which encodes the voltage-gated sodium channel (NaV) NaV1.7. Over 25 different SCN9A mutations attributed to EM have been described to date, all identified in the SCN9A transcript utilizing exon 6N. Here we report a novel SCN9A missense variant identified in seven related individuals with stereotypic episodes of bilateral lower limb pain presenting in childhood. The variant, XM_011511617.3:c.659G>C;p.(Arg220Pro), resides in the exon 6A of SCN9A, an exon previously shown to be selectively incorporated by developmentally regulated alternative splicing. The mutation is located in the voltage-sensing S4 segment of domain I, which is important for regulating channel activation. Functional analysis showed the p.Arg220Pro mutation altered voltage-dependent activation and delayed channel inactivation, consistent with a NaV1.7 gain-of-function molecular phenotype. These results demonstrate that alternatively spliced isoforms of SCN9A should be included in all genomic testing of EM.
Volunteers underwent a supervised resistance exercise program for 16 weeks. The subjects performed 10 exercises with 3 sets of 10 maximum repetitions in each. The training sessions were held twice a week.
Formulations for oral transmucosal compositions that include aromatase inhibitors (AIs) in combination with transmucosal absorption enhancers are disclosed. Disclosed oral transmucosal compositions may be for immediate release or slow release, and may be administered to increase bloodstream testosterone levels and thereby reduce symptoms of testosterone deficiency. Disclosed oral transmucosal compositions may include liquid dosage forms, solid dosage forms, and chewing gums. Further dosage forms may include mucoadhesive thin strips, thin films, tablets, patches, and tapes, among others. Other dosage forms may be: mucoadhesive liquids such as gel-forming liquid; gel-forming; semisolids; and gel-forming powders, among other dosage forms that exhibit mucoadhesive properties, and provide oral transmucosal delivery of AIs. Disclosed oral transmucosal compositions may allow the delivery of AIs directly into the patient's bloodstream, thus providing high bioavailability of AIs; therefore, required dose may be lower. Additionally, adjustments of AIs dosages may be achieved when using disclosed oral transmucosal compositions.
After the approve of the Ethics Committee and the patients were informed and taken informed consent form from them (18 female and 23 male) totally 41 patients between the age of 20-60 years old, who had lumbar disc hernia, under general anesthesia have been taken under the study. The patients with hepatic, renal or neurological diseases and using sedative- hypnotic, anticonvulsive and stimulant drugs and pregnant patients were excluded. Then they have been divided into two groups by closed envelope drawing method randomly and were allowed to stay hungry at least 8 hours. All the patients were applied the cognitive functions during the premedication visit MMSE (Mini Mental State Examination) that has quite practical usage and the test called Standardized Mini Mental Test Examination(SMMT-E) for the untrained persons. Test composed of question-answer in order to calculate the remembering, caution and calculation structure. All patients SMMTE scores were recorded. In the operation room, patients were applied the standard D-II derivation electrocardiography, heart beat rate, non-invasive arterial pressure, peripheral oxygen saturation (SpO2) and Bispectral Index (BİS) monitorization. Serum sale infusion was started by opening the vascular access with 18-20 gauge cannula. The skin of forehead and the temporal side were cleaned with alcohol cotton for the BİS monitorization. The electrode in the proximal part of the three electrodes of disposable BİS sensor was adhered to the middle of the forehead; the distal electrode to the temporal area on the eye line and the other electrode in between them both were adhered. The BİS values (BİS Monitor, Aspect, USA) were continuously monitored. The Group I (TİVA, n= 20) were received propofol-remifentanil and the Grup II (TİVA+D, n= 20) propofol- remifentanil and additional dexmedetomidine infusion.

Induction of propofol infusion in all two groups was started as firstly 12 mg. kg-1 for the 30 minutes, the second 30 minutes 9 mg. kg-1 and the BIS values were arranged between 40-60 until the end of the operation. At the same time remifentanil infusion 0.5 μg.kg-1 was applied as opioid and arranged according to the tension artery and heart rate. The dexmedetomidine infusion has been started as 0.5 μg.kg-1 without making the loading dose and the dose change was not made. Rocuronium 0.5 mg. kg-1 iv. was applied for the endotracheal intubation. After intubation the carbon dioxide concentration was recorded in all periods.

The patients were ventilated mechanically after the intubation in order to be ETCO2 (end-tidal carbon dioxide) 30-44 mmHg, tidal volume 8-10 mL. kg-1 . In case of tachycardia or hypertension the opioid dose was reduced in case of bradycardia or hypertension while the opioid dose was being increased. Propofol infusion was arranged to be kept in between BİS score 40-50. The effect of the used muscle relaxant was returned by neostigmine 0,05- 0,07 mg. kg-1 i.v. and atropin 0,03 mg. kg -1 i.v. After the operation all patients have been taken to the recovery room.

Then the tests of cognitive function evaluation were repeated as postoperative 2nd hour, 24 hours, 1 week and 1 month.
Objectives: Highland barley (HB) consumption offers numerous health benefits; however, its impact on glycolipid metabolism abnormalities induced by a high-fat diet remains unclear. Consequently, this study aimed to investigate the therapeutic effects and underlying molecular mechanisms of HB in the context of obesity; Methods: Rats were fed either a high-fat diet (HFD) to induce obesity or a standard diet (SD) for six weeks. The rats in the HFD group were randomly assigned into five groups: HFD+HFD, HFD+SD, and low (30%), medium (45%), and high (60%) doses of the HB diet for an additional ten weeks. Analyses of serum lipid profiles, liver histology, transcriptomes, and untargeted metabolomes were conducted; Results: HB intake resulted in decreased weight gain, reduced feed intake, lower serum triglyceride and cholesterol levels, and diminished hepatic lipid accumulation. It also improved insulin and fasting blood glucose levels, and antioxidant capacity in the HFD-fed rats. Transcriptome analysis revealed that HB supplementation significantly suppressed the HFD-induced increase in the expression of Angptl8, Apof, CYP7A1, GDF15, Marveld1, and Nr0b2. Furthermore, HB supplementation reversed the HFD-induced decrease in Pex11a expression. Untargeted metabolome analysis indicated that HB primarily influenced the pentose phosphate pathway, the Warburg effect, and tryptophan metabolism. Additionally, integrated transcriptome and metabolome analyses demonstrated that the treatments affected the expression of genes associated with glycolipid metabolism, specifically ABCG8, CYP2C12, CYP2C24, CYP7A1, and IRS2. Western blotting confirmed that HB supplementation impacted the IRS2/PI3K/AKT signaling pathway; Conclusions: HB alleviates HFD-induced obesity and liver injury in an obese rat model possibly through the IRS2/PI3K/Akt signaling pathway.
BACKGROUND: Rhabdoid tumors (RT) are aggressive, rare tumors predominantly affecting young children, characterized by biallelic SMARCB1 gene inactivation. While most SMARCB1 alterations are acquired de novo, a third of cases exhibit germline alterations, defining Rhabdoid Tumors Predisposition Syndrome. With the increased sensitivity of next-generation sequencing (NGS), mosaicisms in genes linked to genetic diseases are more detectable. This study focuses on exploring SMARCB1 germline alterations, notably mosaicism in blood samples of children with RT and in parents, using a custom NGS panel.
METHODS: A cohort of 280 children and 140 parents with germline analysis was studied. Germline DNA from 111 children with RT and 32 parents were reanalyzed with a custom NGS panel with 1500X average depth targeting the SMARCB1 gene to identify intragenic variants not detected with conventional low-sensitivity methods. Follow-up data was obtained for 77 patients.
RESULTS: Nine previously undetected mosaicism cases were identified, totaling 17/280 patients with a mosaic variant (6.1%) in the cohort, with variant allele frequencies between 0.9% and 33%, thus highlighting the prior underestimation of its prevalence. Follow-up data showed that 4 out of 7 survivors with mosaic variants developed distinct novel tumors, 2 sharing SMARCB1 alterations with the initial tumor, emphasizing the potential clinical impact of SMARCB1 mosaicism.
CONCLUSIONS: The hitherto underestimated rate of SMARCB1 mosaicism in RT underscores the need for optimized genetic counseling and oncological monitoring. The findings have significant medical implications, considering the dire prognosis of RT.
Overactive bladder is a syndrome of symptoms. The core symptom is urgency with/without urge incontinence, frequency, nocturia. The prevalence of overactive bladder increased with age. The elderly is increasing with time, so the people who suffering from overactive bladder is also increasing. Research related to overactive bladder in the field of physical therapy is remained needed. The purposes of this study are to investigate the application of physical therapy to women with overactive bladder, emphasizing on the effect of voluntary muscle contraction for urgency inhibition, including the urodynamic study and clinical study.

There are three stages in this study. In the first stage, we are going to develop a specific health-related quality of life questionnaire for urinary incontinence in Taiwan version. One hundred and fifty women with urinary incontinence and fifty healthy women without lower urinary tract symptom will be recruited in the first year to investigate the reliability and validity of the questionnaire. The Short-Form 36, Chinese version, will be used as gold standard for validity. Fifty women with urgency will be recruited in the second stage to test the effect of muscle active contraction strategies to inhibit detrusor pressure and urgency. The three muscle active contraction strategies include pelvic floor muscle strong contraction, pelvic floor muscle tonic contraction, and transversus abdominis tonic contraction. The outcome variables including detrusor pressure of the urodynamic parameter and self-reported urgency score. Simultaneous image record by abdominal ultrasound during the urodynamic examination will be used to ensure the accuracy of muscle action. The predictors of success of strategy from the result of the second year will be used to stratify the patients in the third stage. Eighty women with urgency will be recruited in the final stage to examine the clinical effect of strategy for urgency inhibition.
The invention relates to the technical field of traditional Chinese medicines and provides a traditional Chinese medicine composition for treating coronary heart disease according to the coronary heart disease knowledge mechanism of traditional Chinese medicine. The traditional Chinese medicine composition is composed of 20-40 parts by weight of honeysuckle, 20-40 parts by weight of red sage root, 10-20 parts by weight of licorice root, 10-20 parts by weight of radix scrophulariae and 10-20 parts of radix angelicae sinensis. The traditional Chinese medicine composition is decocted and one dosage of the decoction is taken every day. One treatment course comprises eight days. The traditional Chinese medicine composition utilizes raw materials easy to obtain, has good curative effects and has no side effect. The statistics results of tests on hundreds of pneumonia patients show that the traditional Chinese medicine composition has an effective rate of 96.8% or more.
Cohort 2 will include approximately 150 patients who are newly initiated on Tyvaso/Tyvaso DPI. For patients to be eligible for Cohort 2, they must have initiated Tyvaso/Tyvaso DPI at Baseline or ≤ 60 days prior to Baseline.
Acne scarring is a common sequela of acne vulgaris, which seriously affects facial esthetics. The treatment options for acne scars vary depending on the development stage, color, type, and location of scarring. The objective and precise assessment of acne scars is a prerequisite for treatment, and it is also an important means of monitoring the treatment effect. The traditional methods to evaluate the types and severity grade of acne scars are primarily based on subjective assessment by physicians, which lacks objectivity and accuracy. Novel noninvasive skin imaging techniques, such as skin surface imaging analysis systems, dermoscopy, reflectance confocal microscopy (RCM), high-frequency ultrasound (HFUS), optical coherence tomography (OCT), and multiphoton tomography (MPT), provide new tools for the rapid and objective assessment of acne scars. This article reviews the progress of skin imaging techniques in the diagnosis, classification, and efficacy evaluation of acne scars.
A dental product in the form of a solid comprising (a) a mineral source, wherein the mineral source comprises a source or sources of calcium ions, phosphate ions or both calcium ions and phosphate ions; (b) a salt of carbonic acid; (c) an acidifying agent and (d) xylitol. The acidifying agent comprises at least citric acid and malic acid, wherein the citric acid and malic acid are present in a weight ratio of from 4:1 to 1:1. Using an acidifying agent as claimed and in such ratios provides a preferable effervescent system for dissipating an active component. In a preferred embodiment, the mineral source is dicalcium phosphate and the salt of carbonic acid is sodium bicarbonate. Also claimed is a process for the production of the dental product by pressing the composition into the form of a tablet and a method of cleansing the mouth and freshening the breath by dissolving the dental product in the mouth and then rinsing the mouth. The dental product may also reduce or prevent the accumulation of plaque and organic particulates.
MBSR incorporates yoga, discussion periods, and several types of meditation, all involving attention to the present moment and acceptance of any feelings, sensations or thoughts, allowing the practitioner to calm his or her mind and come back to the present moment. The typical MBSR format will be adapted to match the SKY intervention. This intervention will include an 8-day intensive group class (2.5 hours/day) followed by 4 weekly sessions (3hrs/session).
Total of 80 children aged 6 month to 7 years of ASA physical status I or II, undergoing unilateral hernia repair will be enroled in the study. One group will receive caudal block (CB) and the other group will receive local wound infiltration (LWI).

Group CB will receive 1ml kg 0,25% bupivacaine and group LWI will receive 0,2 ml kg 0,25% bupivacaine. Data taken will than be analyzed and interpreted. Postoperative pain will be assess using the Children's Hospital of Eastern Ontario Pain Scale (CHEOPS, 0-10)(8) and the Faces Legs Activity Cry Consolability tool (FLACC, 0-10)(9) at 30 min and 1, 2, and 3 h after operation. The time to first supplemental oral acetaminophen demand (first acetaminophen time) was defined as the time from the end of surgery to the first registration of more than 4 on both CHEOPS and FLACC by the investigator. Twenty-four hours after surgery, reports of delayed side-effects and demands for rescue acetaminophen from the child will be gathered. The investigator, who will be blind to the treatment group, will document these data with the medical records.
Systems and methods for prediction, prevention and management of chronic and autoimmune diseases. Inputs containing data are received from a user via at least one of a mobile device, an application provided thereon, or one or more connected devices. Data is processed via one or more user profiling engines and one or more user context engines. Based on the user profiling engine(s), a digital blueprint of the user is generated. Also, via an incremental change engine, incremental change programs (ICPs) are generated based at least in part on data processed from the user context engine(s), the digital blueprint of the user, and a predefined set of goals. An interaction engine is designed to assemble based at least in part on user goals, the plurality of ICPs, and the digital blueprint, a specific interaction to be delivered. Thereafter, the specific interaction is delivered to the user in accordance with an optimal time and domain of intervention.
The intervention arm will be given a 45 minute oral health education which will include oral hygiene instructions and motivation/training for oral self-care (dietary counselling; snacking during and not mealtimes; post-meal rinsing; flossing; brushing frequency, time, and method; tongue cleaning; toothbrush type/care; toothpaste quantity/type; dental visits). Audio-visual aids and leaflets reinforcing the oral health education will also be provided.
High blood pressure (BP) is one of the major cardiovascular risk factors in adults. Home blood pressure monitoring is superior to office-based measurements for prediction of the future development of cardiovascular diseases and is recommended by major guidelines. To monitor BP at home, patients can use devices that measure BP either at the arm or at the wrist.

Among BP monitors, the wrist device is relatively easy to use, as the cuff can be used with one hand easily and correctly around the wrist than around the arm, and undressing is not necessary. Since the wrist devices have the advantage of being smaller, lighter, and more inexpensive than the upper arm devices, wrist devices become increasingly popular. However, it is of utmost importance to ensure that the BP measuring device can measure BP accurately. To make sure the performance of these devices, several guidelines have proposed protocols to validate these devices. This study will be aimed to validate a wrist type oscillometric blood pressure monitoring with reference to the brachial blood pressure measured by auscultatory method with a mercury sphygmomanometer.
FIELD: medicine, biochemistry. SUBSTANCE: invention relates to agent used for treatment of pathological osseous metabolism. Agent comprises at least one substance taken among the group consisting of osteoclastogenesis-inhibiting factor (OCIF), its homologs and variants and polysaccharide or its derivatives. As polysaccharide or its derivatives heparin, dextran sulfate and related substances can be used. Invention provides the excellent therapeutic effect in such species of pathological osseous metabolism as osteoporosis, hypercalcemia or chronic articulation rheumatism and shows the stable activity. EFFECT: enhanced effectiveness of agent, valuable medicinal properties. 6 cl, 10 dwg
BACKGROUND: Accurate detection of kidney damage is key to preventing renal failure, and identifying biomarkers is essential for this purpose. We aimed to assess the accuracy of miRNAs as diagnostic tools for chronic kidney disease (CKD).
METHODS: We thoroughly searched five databases (MEDLINE, Web of Science, Embase, Scopus, and CENTRAL) and performed a meta-analysis using R software. We assessed the overall diagnostic potential using the pooled area under the curve (pAUC), sensitivity (SEN), and specificity (SPE) values and the risk of bias by using the QUADAS-2 tool. The study protocol was registered on PROSPERO (CRD42021282785).
RESULTS: We analyzed data from 8351 CKD patients, 2989 healthy individuals, and 4331 people with chronic diseases. Among the single miRNAs, the pooled SEN was 0.82, and the SPE was 0.81 for diabetic nephropathy (DN) vs. diabetes mellitus (DM). The SEN and SPE were 0.91 and 0.89 for DN and healthy controls, respectively. miR-192 was the most frequently reported miRNA in DN patients, with a pAUC of 0.91 and SEN and SPE of 0.89 and 0.89, respectively, compared to those in healthy controls. The panel of miRNAs outperformed the single miRNAs (pAUC of 0.86 vs. 0.79, p < 0.05). The SEN and SPE of the panel miRNAs were 0.89 and 0.73, respectively, for DN vs. DM. In the lupus nephritis (LN) vs. systemic lupus erythematosus (SLE) cohorts, the SEN and SPE were 0.84 and 0.81, respectively. Urinary miRNAs tended to be more effective than blood miRNAs (p = 0.06).
CONCLUSION: MiRNAs show promise as effective diagnostic markers for CKD. The detection of miRNAs in urine and the use of a panel of miRNAs allows more accurate diagnosis.
Topical fluorides have been proven to be clinically effective in the prevention of dental caries. It is generally agreed that anti-caries effect of fluoride (F) is mainly by decreasing the rate of enamel demineralization and enhancing the rate of enamel remineralization. An in-situ Surface Micro-hardness (SMH) test is widely used to evaluate enamel demineralization and remineralization during the caries process. Determination of fluoride uptake in-situ also provides better estimation of true fluoride bioavailability of fluoride dentifrice products. In this study, an in-situ remineralization fluoride uptake model will be used to compare the efficacy of experimental dentifrice with a marketed dentifrice and placebo dentifrice. Participants wore partial dentures containing two partially demineralized enamel specimens for two weeks- 24 hours per day, except when brushing (twice daily) with test dentifrice. Following each treatment period, the enamel specimens were analyzed for SMH recovery and fluoride uptake through microdrill enamel biopsy technique.
Transradial Access (TRA) is the suggested method when performing coronary procedures. TRA has several advantages over the transfemoral approach, but also some restrictions. The present study compared the efficacy and safety of the traditional proximal transradial approach (pTRA) with a newer technique known as the distal transradial approach (dTRA) for performing a coronary angiography (CAG) and percutaneous coronary intervention (PCI). Patients (n = 700) were placed into one of two categories (dTRA or pTRA) based on a random technique. The primary endpoint was RAO at follow-up. The secondary endpoints included the time required for sheath insertion, the rate of successful sheath insertion, rate of successful completion of CAG and PCI, total procedure time, total fluoroscopy time, total radiation dose, total contrast volume used, pain perception (visual analog scale 0-10), and hemostasis duration. dTRA patients had more skin punctures, failed punctures, failed wiring, overlap of access sites, sheath insertion time, and pain evaluation scale, while the pTRA group had more hemostasis time and first-time cannulation. RAO and pseudoaneurysm (PseA) were lower in the dTRA group. In this randomized study, dTRA had lower RAO and PseA than pTRA. However, multicenter, larger-patient trials are needed to provide definitive evidence.
Administer lusutrombopag at 3mg/qd orally for 12 weeks (lusutrombopag starting dose is 3mg, once daily. After 2 weeks of continuous administration, the dose can be increased by 3mg every 2 weeks based on the platelet count and safety of the subject. The dose can be gradually increased to 9mg/d over a total of 12 weeks). The course should be at least 3 months. When the platelet increase is \<20×10\^9/L, the daily dose can be increased by 3mg up to a maximum of 9mg/day; when the platelet increase is ≥50×10\^9/L and ≤200×10\^9/L, the dose can be maintained; when the platelet count is ≥200×10\^9/L and ≤400×10\^9/L, the daily dose can be reduced by 3mg; when the platelet count is \>400×10\^9/L, the drug can be suspended and resumed when the platelet count decreases to \<200×10\^9/L, with the daily dose reduced by 3mg. In this case, if the lowest dose of 3mg/day is used, the drug can be suspended. Responders continue treatment until 6 months.