anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
Despite significant advancements in rare genetic disease diagnostics, many patients with rare genetic disease remain without a molecular diagnosis. Novel tools and methods are needed to improve the detection of disease-associated variants and understand the genetic basis of many rare diseases. Long-read genome sequencing provides improved sequencing in highly repetitive, homologous, and low-complexity regions, and improved assessment of structural variation and complex genomic rearrangements compared to short-read genome sequencing. As such, it is a promising method to explore overlooked genetic variants in rare diseases with a high suspicion of a genetic basis. We therefore applied PacBio HiFi sequencing in a large multi-generational family presenting with autosomal dominant 46,XY differences of sexual development (DSD), for whom extensive molecular testing over multiple decades had failed to identify a molecular diagnosis. This revealed a rare SINE-VNTR-Alu retroelement insertion in intron 4 of NR5A1, a gene in which loss-of-function variants are an established cause of 46,XY DSD. The insertion segregated among affected family members and was associated with loss-of-expression of alleles in cis, demonstrating a functional impact on NR5A1. This case highlights the power of long-read genome sequencing to detect genomic variants that have previously been intractable to detection by standard short-read genomic testing.
Two-way messages allow the recipient of the SMS message (the patient) to respond to the messages ("We hope you are feeling well today. Reply 1 if well, 2 if unwell") to request a follow-up call from the clinic.
Healthy subjects undergoing low intensity blood flow restricted resistance exercise (BFRRE) conducted as 4 sets of bilateral knee extensions at 30% of 1RM until voluntary fatigue. The sets are intercepted by 30 seconds of rest (during rest the cuff's are still inflated).
PURPOSE:An adhesive application pharmaceutical, prepared by incorporating a rubber type adhesive plaster with a drug active constituent and a polyphosphoric acid (salt), and having improved stability of the drug active constituent. CONSTITUTION:An adhesive application pharmaceutical prepared by incorporating a rubber type adhesive plaster, e.g. a natural rubber, synthetic rubber or a mixture thereof or further the third constituent, e.g. a tackifier, an adhesion and holding power adjusting agent or a filler, etc. with an additive selected from tripolyphosphosphoric acid, tetrapolyphosphoric acid and polyphosphoric acid salts, preferably having 2-6pH in a 0.1N aqueous solution thereof, and a drug active constituent. The amount of the polyphosphoric acid (salts) to be incorporated is 0.01-2%, preferably 0.01-0.2%, based on the weight of the plaster. There is no particular limitation in the drug active constituent if the constituent may be formed into a pharmaceutical of the rubber type adhesive application pharmaceutical. A compound containing a phenolic hydroxyl group or amine type compound used as the drug active constituent is particularly effective.
The effect of 2,2',4,4'-tetrabromodiphenyl ether (BDE-47), a persistent environmental pollutant commonly used as a flame retardant in various consumer products, on pancreatitis has not been clearly elucidated, although it has been reported to be toxic to the liver, nervous system, and reproductive system. Acute pancreatitis (AP) and chronic pancreatitis (CP) models were induced in this study by intraperitoneal injection of caerulein. The aim was to investigate the impact of BDE-47 on pancreatitis by exposing the animals to acute (1 week) or chronic (8 weeks) doses of BDE-47 (30 mg/kg in the low-concentration group and 100 mg/kg in the high-concentration group). Additionally, BDE-47 was utilized to stimulate mouse bone marrow-derived macrophages, pancreatic primary stellate cells, and acinar cells in order to investigate the impact of BDE-47 on pancreatitis. In vivo experiments conducted on mice revealed that chronic exposure to BDE-47, rather than acute exposure, exacerbated the histopathological damage of AP and CP, leading to elevated fibrosis in pancreatic tissue and increased infiltration of inflammatory cells in the pancreas. In vitro experiments showed that BDE-47 can promote the expression of the inflammatory cytokines Tnf-α and Il-6 in M1 macrophages, as well as promote acinar cell apoptosis through the activation of the PERK and JNK pathways via endoplasmic reticulum stress. The findings of this study imply chronic exposure to BDE-47 may exacerbate the progression of both AP and CP by inducing acinar cell apoptosis and dysregulating inflammatory responses.
The study group consisted of students enrolled in the Care of a Child with Special Needs course in the 2021-2022 spring semester. Introductory information form and Self-Efficacy Perception Scale were filled out. A common day was determined with the students and a 15-minute training was given on the example of preparing a pocket card. A total of nine groups of seven people were formed and they were prepared for the next week. At the end of each lesson, student groups were asked to prepare a pocket card on a 22 cm piece of paper. A WhatsApp group and an Instagram page were established to check whether the students had made their pocket cards and, if so, whether it was accurate. The cards were shared in their final form on Instagram and each student was told to turn on page notifications and like the post when they saw it so that they could instantly follow the post. In the last week, students were asked to fill out the Self-Efficacy Perception Scale again.
Neonates exposed to citalopram and other SSRIs or serotonin and norepinephrine reuptake inhibitors (SNRIs), late in the third trimester, have developed complications requiring prolonged hospitalization, respiratory support, and tube feeding. Such complications can arise immediately upon delivery. Reported clinical findings have included respiratory distress, cyanosis, apnea, seizures, temperature instability, feeding difficulty, vomiting, hypoglycemia, hypotonia, hypertonia, hyperreflexia, tremor, jitteriness, irritability, and constant crying. These features are consistent with either a direct toxic effect of SSRIs and SNRIs or, possibly, a drug discontinuation syndrome. It should be noted that, in some cases, the clinical picture is consistent with serotonin syndrome (see WARNINGS: Serotonin Syndrome ). 

Infants exposed to SSRIs in pregnancy may have an increased risk for persistent pulmonary hypertension of the newborn (PPHN). PPHN occurs in 1 to 2 per 1,000 live births in the general population and is associated with substantial neonatal morbidity and mortality. Several recent epidemiologic studies suggest a positive statistical association between SSRI use (including citalopram) in pregnancy and PPHN. Other studies do not show a significant statistical association. 

Physicians should also note the results of a prospective longitudinal study of 201 pregnant women with a history of major depression, who were either on antidepressants or had received antidepressants less than 12 weeks prior to their last menstrual period, and were in remission. Women who discontinued antidepressant medication during pregnancy showed a significant increase in relapse of their major depression compared to those women who remained on antidepressant medication throughout pregnancy. 

When treating a pregnant woman with citalopram, the physician should carefully consider both the potential risks of taking an SSRI, along with the established benefits of treating depression with an antidepressant. This decision can only be made on a case by case basis (see DOSAGE AND ADMINISTRATION).
BACKGROUND: To describe clinical features, risk factors and outcomes of patients with diagnosis of rare spontaneous suprachoroidal haemorrhage (SSCH) over a 20-year period from a tertiary eye unit.
METHODS: Retrospective, observational case-series of patients with SSCH, defined as SCH without a known cause at diagnosis. Variables analysed included age, gender, ethnicity, systemic and ocular comorbidities, systemic medication, initial and final best corrected visual acuity (BCVA), clinical features, management and follow-up.
RESULTS: Total of 11 eyes of 11 patients were identified. Median age was 70 years (SD 25.9). Most patients were female (82%) and white British. Median follow-up period was 2.2 years. Hypertension was the most frequently associated underlying systemic disease (45%) and 36% were on anti-coagulant or anti-platelet therapy. High myopia was observed in 36% of cases. Presenting BCVA of 1.00 logMAR or better was a positive predictor of final BCVA. No significant improvement in the initial versus final BCVA was found in patients who underwent surgery versus those who remained under observation.
CONCLUSION: Patients over 60 years-old with hypertension, anticoagulant treatment, high myopia, and pseudophakia were common. Visual outcomes were poor, surgical intervention had limited impact. Good initial BCVA predicted better final acuity while extensive SSCH correlated with poorer visual results. Despite the study's limitations, this series offers valuable insights into visual prognosis and prognostic factors.
BACKGROUND: Obesity is a multi-organ system disease, which is associated with, e.g., a higher prevalence of non-alcoholic fatty liver disease (NAFLD) and asthma. Little is known regarding the effect of obesity-related parameters (including liver integrity) and the respiratory phenotype after a combination of physical activity and diet.
METHODS: Thirty-two C57BL/6 mice were, after 27 weeks of a high fat diet (HFD), randomly assigned to two dietary interventions for three weeks: a HFD or a normal chow diet (NCD). In both dietary groups, half of the animals were subjected to a sub-maximal exercise protocol. Lung function, lung inflammation, liver histology, and metabolic profile were determined.
RESULTS: Mice with obesity did not show airway hyperreactivity after methacholine provocation. Sub-maximal exercise with diet (NCD/E) induced a significant reduction in forced expiratory volume in 0.1 s after methacholine provocation. NCD/E had significantly more neutrophils and inflammation (IFN-γ, TNF-α, IL-4, and IL-17F) in bronchoalveolar lavage compared to non-exercising mice on a HFD (HFD/NE). However, more epithelial injury (serum surfactant protein D and IL-33) was seen in HFD/NE. Additionally, hepatic steatosis and fibrosis were reduced by combined diet and sub-maximal exercise.
CONCLUSIONS: Combining sub-maximal exercise with diet induced airway hyperreactivity and pulmonary inflammation, while body weight, hepatic steatosis, and fibrosis improved.
Previous research has identified intravascular platelet thrombi in regions affected by myocardial ischemia-reperfusion (MI/R) injury and neighbouring areas. However, the occurrence of arterial thrombosis in the context of MI/R injury remains unexplored. This study utilizes intravital microscopy to investigate carotid artery thrombosis during MI/R injury in rats, establishing a connection with the presence of prothrombotic cellular fibronectin containing extra domain A (CFN-EDA) protein. Additionally, the study examines samples from patients with coronary artery disease (CAD) both before and after coronary artery bypass grafting (CABG). Levels of CFN-EDA significantly increase following MI with further elevation observed following reperfusion of the ischemic myocardium. Thrombotic events, such as thrombus formation and growth, show a significant increase, while the time to complete cessation of blood flow in the carotid artery significantly decreases following MI/R injury induced by ferric chloride. The acute infusion of purified CFN-EDA protein accelerates in-vivo thrombotic events in healthy rats and significantly enhances in-vitro adenosine diphosphate and collagen-induced platelet aggregation. Treatment with anti-CFN-EDA antibodies protected the rat against MI/R injury and significantly improved cardiac function as evidenced by increased end-systolic pressure-volume relationship slope and preload recruitable stroke work compared to control. Similarly, in a human study, plasma CFN-EDA levels were notably elevated in CAD patients undergoing CABG. Post-surgery, these levels continued to rise over time, alongside cardiac injury biomarkers such as cardiac troponin and B-type natriuretic peptide. The study highlights that increased CFN-EDA due to CAD or MI initiates a destructive positive feedback loop by amplifying arterial thrombus formation, potentially exacerbating MI/R injury.
FIELD: medicine, food industry. SUBSTANCE: invention relates to curative-prophylactic and nutrient biologically active foodstuffs. Hematogen has biologically active supplement of animal origin, sugar, vanillin, whole condensed milk with sugar, starch molasses, hazel nut kernels, licorice roots dry extract and ascorbic acid. Biologically active supplement of animal origin consists of Siberian stag, Manchurian wapiti or reindeer velvet antlers powder, or powder prepared from Siberian stag, Manchurian wapiti or reindeer nondefibrinated blood, or black nutrient albumin, or powder mixture prepared of Siberian stag, Manchurian wapiti or reindeer velvet antlers, powder prepared of Siberian stag, Manchurian wapiti or reindeer nondefibrinated blood and black nutrient albumin taken in the ratio = (0.1-1.0): (0.1-1.0): 1.0-2.0), respectively, or powder mixture prepared of Siberian stag, Manchurian wapiti or reindeer velvet antlers and black nutrient albumin taken in the ratio = (0.1-1.0):(1.0-2.0), respectively, or powder mixture prepared of Siberian stag, Manchurian wapiti or rein- -deer nondefibrinated blood and black nutrient albumin taken in the ratio = (0.1-1.0):(1.0-2.0), respectively. EFFECT: enhanced curative-prophylactic and nutrient quality of hematogen, expanded spectrum of biologically active components. 6 cl, 1 tbl, 12 ex
BACKGROUND: The prevalence of low-, moderate-, and high-risk obesity has been increasing globally. Our aim was to estimate the societal burden of these three obesity classes in the Austrian population by taking a societal-annual perspective and an individual-life-cycle perspective. Secondly, we sought to identify the respective cost drivers and the effects on life expectancy.
METHODS: We used population-weighted survey data on the distribution of body mass index (BMI) and data on relative risks regarding 83 diseases. Using fractional polynomial regressions, we estimated relative risks per BMI unit for about 30 cost-intensive diseases up to BMI values of 50. The approach for the cost analysis was based on the use of population-attributable fractions applied to direct medical and indirect cost data. Macro-disease-specific data regarding cost factors came from cost-of-illness statistics and administrative sources.
RESULTS: About 8.2% of deaths and 4.6% of health expenditure are attributable to obesity in Austria in 2019, causing 0.61% of GDP loss. A third of annual direct and indirect costs came from class 2 and class 3 obesity. From an individual perspective, life-cycle costs of class 2 and class 3 obesity were 1.9 and 3.6 times the costs of class 1 obesity, respectively. At the age of 45, people with high-risk obesity are about to lose approximately 4.9 life years and 9.7 quality-adjusted life years.
CONCLUSIONS: We have extended the method of population-attributable fractions, allowing us to estimate differences in the life-cycle direct medical and indirect costs between low-, moderate-, and high-risk obesity. We found that the lifetime costs of obesity are strikingly different between obesity classes, which has been veiled in the societal-annual perspective. Our findings provide a foundation for evaluating public health interventions aimed at combating obesity in order to mitigate the escalating individual and societal burden resulting from obesity prevalence and complications in the future.
OBJECTIVE: To identify factors associated with delays in beginning adjuvant therapy and prognosis impacts on non-metastatic breast cancer patients.
METHODS: This assessment comprised a prospective cohort study concerning breast cancer patients treated at a public oncology centre. A time interval of ≥60 days between surgery and the beginning of the first adjuvant treatment was categorised as a delay. Factors associated with delays were evaluated through logistic regression analysis and the prognosis effects were assessed by a Cox regression analysis.
RESULTS: The median time interval between surgery and the first adjuvant treatment for the 401 women included in this study was of 57.0 days (37.0-93.0). Independent factors associated with delays comprised not presenting an overexpression of the HER-2 protein, not having undergone neoadjuvant chemotherapy, and having undergone chemotherapy or other therapeutic modalities other than hormone therapy and chemotherapy as the first adjuvant treatment. Delays did not affect recurrence, distant metastasis, or death risks. Factors associated with recurrence and distant metastasis risks comprised a clinical staging ≥2B, having undergone neoadjuvant chemotherapy, presenting the luminal molecular subtype B and triple-negative tumours, and having children. Factors associated with death comprised triple-negative molecular tumours and neoadjuvant chemotherapy.
CONCLUSION: Delays in beginning adjuvant treatment did not affect the prognosis of non-metastatic breast cancer patients. Clinical and treatment-related factors, on the other hand, were associated with delays, and recurrence, distant metastasis, and death risks.
New-onset postoperative atrial fibrillation after cardiac surgery (POAF) is commonly observed and it increases morbidity, mortality, and health care expenditure. Amiodarone administration is proposed initial agent for prevention and treatment of POAF, but while useful, this drug has a number of adverse side-effects and relapse requiring anticoagulation therapy at hospital discharge is prevalent. Effective medications are needed with respect to management. Minocycline, an old tetracycline antibiotic, has additional effects including inhibition of atrial myocyte apoptosis.The finding that apoptosis of right atrial myocytes is thought to be one etiologic factor underlying POAF supports examining the hypothesis in this project that adding minocycline to amiodarone could favorably reduce POAF frequency rate. Minocycline has been used for over four decades and has a good safety profile, therefore this investigation is not a phase I trial. With a limited sample size, while the data of our MINAA Exploratory trial (the Minocycline Plus Amiodarone Versus Amiodarone Alone for the Prevention of Atrial Fibrillation After Cardiac Surgery) were not sufficient to draw definite conclusions, rather they suggested feasibility of such therapy in this cohort. In the current pilot study, we assess the clinical effectiveness and safety of minocycline plus amiodarone in preventing POAF with a larger cohort of two parallel groups (n=40, each) randomly assigned in a 1:1 ratio.In this trial we compare intravenous minocycline 100 mg daily x 5 days starting intra-operatively combined with oral amiodarone (400 mg twice daily for 7 days, then 200 mg twice daily for the next 7 days), versus the same dose oral amiodarone alone, for prevention of POAF among adult patients undergoing coronary artery bypass grafts, heart valve repair or replacement, or combined procedures. All patients receive 150 mg intravenous amiodarone intraoperatively and a 2nd similar dose of amiodarone bolus is permitted for tachyarrhythmia any time within 24 hours after surgery.The primary outcome is a newly detected POAF by telemetry, Holter monitoring, or by daily wireless ECG sensors within 6 weeks from the time of randomization. Composite secondary outcomes include death at 30 days, length of hospital stay, and other adverse events.To elucidate how minocycline causally elicits its pharmacologic effects, sera sampling of biomarkers such as NF-Kappa B, cleaved caspase-3, and NT-pro-BNP are measured pre-procedure, then on the 3rd and 5th postoperative days. If the proposed intervention is successful, it underscores what can ensue when the target evolves to the common population level requiring a nuanced approach pursued by Phase III-IV proposals
Home-based Lymphedema Care Program (HBLCP): Participants will undergo one training session with a lymphedema therapist, and then receive a self-care video and educational manual to review at home. After completion of training session, follow-up measures occur at 1, 2, and 3 months.
PURPOSE: To obtain a medicine kit useful for preventing graft versus host diseases, by combining an anti-CD8 monoclonal antibody with a CD4<4> deactivator. CONSTITUTION: The marrow of HLA-(human leukocyte antigen) adaptable donor is sucked from crest of the ilium to give a nucleated bone marrow cell, which is subjected to Ficoll-Hypaque density dependence centrifugation to give a mononuclear cell. The cell is suspended in 10% Mucoy's medium containing 10% patients serum. A mixture of the cell suspension and the patient' s serum is blended with an anti CD(monoclonal antibody (e.g. anti Leu 2b, anti Leu 2c or OKT8) in an amount enough to remove CD8+ in the marrow of a donor. The bone marrow cell from which the CD8+ is completely removed is transplanted to a patient (usually by intravenous administration) and then a CD4+ deactivator (e. g. cyclosporin or anti-CD4 monoclonal antibody) is administered to the patient.
Cerebral palsy; It is defined as a permanent, non-progressive disorder that occurs as a result of the effects of the developing fetal or infant brain for different reasons in prenatal, perinatal or postnatal periods. Children with cerebral palsy experience fundamental limitations in the postural control of static and dynamic tasks such as sitting, standing, and walking. However, children with cerebral palsy need rehabilitation. The COVID-19 pandemic prevents effective provision of rehabilitation services for children with cerebral palsy. However; Lack of access to rehabilitation services in individuals with cerebral palsy during the COVID-19 pandemic has increased the need for alternative and complementary methods. During the Covid-19 pandemic process, the tele-rehabilitation process will be able to achieve functional and social participation in children with cerebral palsy.
* Atazanavir capsules must be taken with food.
  * Do not open the capsules.
  * The recommended oral dosage of atazanavir capsules depends on the treatment history of the patient and the use of other coadministered drugs. When coadministered with H2-receptor antagonists or proton-pump inhibitors, dose separation may be required [see Dosage and Administration (2.3, 2.4, and 2.6) and Drug Interactions (7)].
  * Atazanavir capsules without ritonavir are not recommended for treatment-experienced adult or pediatric patients with prior virologic failure [see Clinical Studies (14)].
  * Efficacy and safety of atazanavir capsules with ritonavir when ritonavir is administered in doses greater than 100 mg once daily have not been established. The use of higher ritonavir doses may alter the safety profile of atazanavir (cardiac effects, hyperbilirubinemia) and, therefore, is not recommended. Prescribers should consult the complete prescribing information for ritonavir when using ritonavir.
The method involves adjusting a physiological parameter of a patient to a target range. A time interval (TM) is added to last measuring time, and check is made whether preliminary next measuring time lies in the exclusion time windows. Next measuring time is determined by considering measurement exclusion time windows (EX). Recommendation for dosage of an active ingredient to be administered to the patient is calculated until the next measuring time based on a dosage proposal algorithm including patient data e.g. patient weight. An independent claim is also included for a diagnostic blood analyzer for receiving samples taken from a patient at discrete measuring times.