anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
BACKGROUND: GNE myopathy is an ultra-rare autosomal recessive distal myopathy caused by pathogenic variants of the GNE gene, which encodes a key enzyme in sialic acid biosynthesis. The present study aimed to examine the long-term progression of GNE myopathy, genotype-phenotype correlations, and complications to provide useful information for predicting patient progression and designing clinical trials using a large collection of registry data over a 10-year period.
METHODS: We analyzed 220 Japanese patients with GNE myopathy from a national registry in Japan. Diagnoses were confirmed by genetic curators based on genetic analysis reports. We analyzed registration sheets and annually updated items completed by attending physicians.
RESULTS: In total, 197 of 220 participants (89.5%) carried p.D207V or p.V603L in at least one allele. The median disease duration to loss of ambulation was estimated to be 10 years in p.V603L homozygotes (n = 48), whereas more than 90% of p.D207V/p.V603L compound heterozygotes were estimated to be ambulatory even 20 years after disease onset according to Kaplan-Meier analysis (p < 0.001). Moreover, participants with a younger age of onset lost ambulation earlier regardless of genotype. A decline in respiratory function was observed as the disease progressed, particularly in p.V603L homozygotes, whereas none of the p.D207V/p.V603L compound heterozygotes showed a decline.
CONCLUSIONS: The present study demonstrated large differences in disease progression and respiratory function between genotypes. Moreover, age of onset was found to be an indicator of disease severity regardless of genotype in GNE myopathy patients. These results may help stratify patients in clinical trials and predict disease progression.
The investigators will study the diagnostic accuracy of a pocket-size POCUS device vs. CXR for the etiological diagnosis of CAP, in paediatric age. During 1 year, all children aged \>12 months and \<18 years admitted to the Paediatric Department with the diagnosis of CAP on admission will be included. At least 76 participants will be required. Two investigators will perform, independently, a POCUS at admission, daily during hospitalization, 15 days and 1 month after discharge. All children will also undergo a CXR upon admission and whenever necessary. A third investigator will classify the CXR independently. It will be used the General Electrics Vscan AirTM®, with Bluetooth connection to smartphone/tablet. It will be collected the systematized description of POCUS and CXR, sociodemographic, clinical and therapeutic variables.
Fatigue is the most frequently reported symptom in patients with cancer. The causes of fatigue are multifactorial and include the disease itself, antineoplastic therapies, anemia, depression, and malnutrition. Our preliminary data suggest that micronutrient deficiencies, specifically carnitine deficiency, may be an important factor in fatigue. Carnitine plays a major role in energy metabolism. Systemic depletion is characterized by weight loss, fatigue, muscle weakness, decreased tolerance to metabolic stress, and cardiomyopathy. We found deficiency of the micronutrient carnitine in 17/27 patients with cancer. Symptoms of fatigue and functional status improved significantly in those patients who received oral L-carnitine supplementation. In addition, we observed similar results in 6/10 patients with end stage AIDS presenting with carnitine deficiency. Objectives: a) To determine the effect of L-carnitine therapy on symptoms of fatigue in patients with terminal cancer and serum carnitine deficiency, and b) to determine the effect of L-carnitine therapy on performance status, cognitive function, mood, quality of life, and motor activity in these patients. Study Design: We propose to conduct a Phase Il developmental randomized double-blind placebo-controlled study to determine the effect of the micronutrient L-carnitine on fatigue and other outcomes in patients with terminal cancer. A sample of 130 patients with terminal cancer, fatigue and serum carnitine deficiency will be recruited into the intervention study. At the first visit, the patients will receive a baseline assessment of fatigue, performance status, cognitive function, mood, and quality of life and motor activity. a) During weeks 1-4, patients will be randomized to receive L-carnitine, 2 g/day, placebo. b) During weeks 5-8, all patients will receive L-carnitine at a dose of 2 g/day, for a period of 4 weeks. Measures will be repeated at 48 hs, 2 weeks, 4 weeks and 8 weeks. The primary endpoint will be change in fatigue at 4 weeks. Analysis will evaluate group differences in the primary endpoint and other outcomes. An interim analysis will be done once 15 patients have been observed in each group at 4 weeks. Paired and unpaired data analyses between groups will be conducted with the assistance of a statistician.
Cerebral atrophy is a key finding in patients with dementia and usually determined on MRI. We tested whether cerebral atrophy can be imaged with FDG PET by applying deformation-based morphometry (DBM). We retrospectively identified 26 patients with a biomarker-supported clinical diagnosis of Alzheimer's disease (AD) who had received FDG PET on a fully-digital PET/CT system and structural MRI and compared them to 13 healthy elderly controls (HEC). We performed DBM with FDG PET data (FDG-DBM). As a reference standard for determining atrophy we used voxel-based morphometry of MRI data (MRI-VBM). For conventional analysis of hypometabolism, scaled FDG PET scans (reference: brain parenchyma) were compared between groups. Receiver operating characteristic (ROC) analyses were performed. ROI read-outs were tested for associations with cognitive test performance. FDG-DBM showed abnormalities in AD mainly in the bilateral hippocampi. Similarly, MRI-VBM showed hippocampal atrophy. By contrast, conventional FDG PET analysis revealed reduced bilateral temporo-parietal FDG uptake (all p < 0.05, FWE-corrected). FDG-DBM measures of the hippocampus significantly separated AD from HEC with an AUC of 0.81; MRI-VBM achieved an AUC of 0.87; the difference between the two ROC curves was not significant (p = 0.40). Whereas FDG uptake of the hippocampus did not separate AD from HEC, FDG uptake of the Landau Meta-ROI achieved an AUC of 0.88. Verbal memory was significantly associated with FDG-DBM measures of the hippocampus (p = 0.009), but not of the Landau Meta-ROI (p > 0.1). The opposite held true for conventional FDG uptake (p > 0.1 and p = 0.001, respectively). Hippocampal atrophy in AD can be detected by applying DBM to clinical, fully-digital FDG PET. It correlates with cognitive performance and might constitute a biomarker of neurodegeneration that is complementary to conventional FDG PET analysis of regional hypometabolism.
GaviLyte- C with flavor pack can be administered orally or by nasogastric tube. Patients should fast at least 3 hours prior to administration. A one hour waiting period after the appearance of clear liquid stool should be allowed prior to examination to complete bowel evacuation. No foods except clear liquids should be permitted prior to examination after GaviLyte- C with flavor pack administration.

ORAL: The recommended adult oral dose is 240 mL (8 fl. oz.) every 10 minutes (see INFORMATION FOR PATIENTS). Lavage is complete when fecal discharge is clear. Lavage is usually complete after the ingestion of 3 to 4 liters.

NASOGASTRIC TUBE: GaviLyte- C with flavor pack is administered at a rate of 20 to 30 mL per minute (1.2 to 1.8 L/hour).

PREPARATION OF GaviLyte- C with flavor pack SOLUTION: This preparation can be used with or without the lemon flavor pack.

1\. To add flavor, tear open lemon flavor pack at the indicated marking and pour contents into the bottle BEFORE reconstitution.

2\. SHAKE WELL to incorporate flavoring into the powder.

3\. Add tap water to FILL line. Replace cap tightly and mix or shake well until all ingredients have dissolved. (No other additional ingredients, e.g. flavorings, should be added to the solution.)

Note: If not using flavor pack, omit steps one and two, above.
All patients will receive peginterferon alfa-2b 1.5 ug/kg administered subcutaneously (SC) once weekly in combination with ribavirin (800-1200 mg/day) administered orally (PO) for a minimum period of 12 weeks. Patients who have not responded to therapy at Treatment Week 12 (ie, Nonresponders who are not HCV-RNA\[-\] at Week 12 of Treatment and/or have a decrease in viral load \<2 log) will stop treatment at Treatment Week 12.
This study retrospectively evaluated the use of intraoperative locally infiltrated peri-incisional liposomal bupivacaine in kidney transplant recipients with the primary outcome of oral morphine equivalent reduction during the transplant admission. Secondary outcomes included pain scores, time to first bowel movement and length of stay. Postoperative morphine equivalents were significantly lower in the liposomal bupivacaine group <24 hours (50% reduction, p < 0.05) and 24-48 hours (56.5% reduction, p < 0.05). When accounting for analgesic medication choices, liposomal bupivacaine did not result in a significant reduction in opioid use within 48 hours postoperatively with the exception of a 51% (p = 0.02) median reduction in fentanyl patient-controlled analgesia morphine equivalents <24 hours postoperatively. Morphine equivalence reductions >48 hours, differences in pain scores, time to first bowel movement or length of stay did not reach significance. Intraoperative liposomal bupivacaine reduced kidney transplant recipient's postoperative opioid requirements, but this benefit did not reliably extend past 24 hours postoperatively.
Volunteers with moderately severe asthma will be recruited and carefully characterized in terms of lung function, asthma symptom scores, medication usage and allergen sensitivity (by blood and skin tests). If suitable, they will then be asked to withdraw their corticosteroids for a week with careful monitoring of the symptoms and peak flows before undergoing fibreoptic bronchoscopy as was carried out in the previous explant study. Bronchial brushings and biopsies will be carried out as per standard technique used in University medicine. Primary epithelial cell cultures will be established from bronchial brushings and will be used for optimising the dose of anti TNF-alpha required for inhibition of TNF-alpha induced responses. The biopsies will be placed in either culture medium alone, allergen extract or allergen extract plus anti TNF-alpha antibody and cultured for 24 hours. The biopsies will then be either snap frozen in liquid nitrogen for analysis of cytokines or processed for immunohistochemical analysis. The supernatants from each study will be recovered and analysed for cytokine (IL-5, IL-8, IL-13, MIP 1 alpha and RANTES) release by ELISA.
CACIPLIQ20® is a medical device used for the treatment of chronic skin ulcers, and contains a molecule belonging to the family of ReGeneraTing Agents (RGTA®). CACIPLIQ20® will be administered topically on the vertical and peri-areolar incisions of one breast for 5 minutes, after subcutaneous plans suture and just before final skin suture.
Obesity, a burgeoning global health crisis, has tripled in prevalence over the past 45 years, necessitating innovative research methodologies. Adipocytes, which are responsible for energy storage, play a central role in obesity. However, most studies in this field rely on animal models or adipocyte monolayer cell cultures, which are limited in their ability to fully mimic the complex physiology of a living organism, or pose challenges in terms of cost, time consumption, and ethical considerations. These limitations prompt a shift towards alternative methodologies. In response, here we show a 3D in vitro model utilizing the 3T3-L1 cell line, aimed at faithfully replicating the metabolic intricacies of adipocytes in vivo. Using a workable cell line (3T3-L1), we produced adipocyte spheroids and differentiated them in presence and absence of TNF-α. Through a meticulous proteomic analysis, we compared the molecular profile of our adipose spheroids with that of adipose tissue from lean and obese C57BL/6J mice. This comparison demonstrated the model's efficacy in studying metabolic conditions, with TNF-α treated spheroids displaying a notable resemblance to obese white adipose tissue. Our findings underscore the model's simplicity, reproducibility, and cost-effectiveness, positioning it as a robust tool for authentically mimicking in vitro metabolic features of real adipose tissue. Notably, our model encapsulates key aspects of obesity, including insulin resistance and an obesity profile. This innovative approach has the potential to significantly impact the discovery of novel therapeutic interventions for metabolic syndrome and obesity. By providing a nuanced understanding of metabolic conditions, our 3D model stands as a transformative contribution to in vitro research, offering a pathway for the development of small molecules and biologics targeting these pervasive health issues in humans.
Anemia is sometimes seen in patients receiving NSAIDs, including Piroxicam Capsules USP. This may be due to fluid retention, occult or gross GI blood loss, or an incompletely described effect upon erythropoiesis. Patients on long-term treatment with NSAIDs, including Piroxicam Capsules USP, should have their hemoglobin or hematocrit checked if they exhibit any signs or symptoms of anemia.

NSAIDs inhibit platelet aggregation and have been shown to prolong bleeding time in some patients. Unlike aspirin, their effect on platelet function is quantitatively less, of shorter duration, and reversible. Patients receiving Piroxicam Capsules USP who may be adversely affected by alterations in platelet function, such as those with coagulation disorders or patients receiving anticoagulants, should be carefully monitored.
AIM: Various anthropometric measures capture distinct as well as overlapping characteristics of an individual's body composition. To characterize independent body composition measures, we aimed to reduce easily-obtainable individual measures reflecting adiposity, anthropometrics and energy expenditure into fewer independent constructs, and to assess their potential sex- and age-specific relation with cardiometabolic diseases.
METHODS: Analyses were performed within European ancestry participants from UK Biobank (N = 418,963, mean age 58.0 years, 56% women). Principal components (PC) analyses were used for the dimension reduction of 11 measures of adiposity, anthropometrics and energy expenditure. PCs were studied in relation to incident type 2 diabetes mellitus (T2D) and coronary artery disease (CAD). Multivariable-adjusted Cox regression analyses, adjusted for confounding factors, were performed in all and stratified by age. Genome-wide association studies were performed in half of the cohort (N = 156,295) to identify genetic variants as instrumental variables. Genetic risk score analyses were performed in the other half of the cohort stratified by age of disease onset (N = 156,295).
RESULTS: We identified two PCs, of which PC1 reflected lower overall adiposity (negatively correlated with all adiposity aspects) and PC2 reflected more central adiposity (mainly correlated with higher waist-hip ratio, but with lower total body fat) and increased height, collectively capturing 87.8% of the total variance. Similar to that observed in the multivariable-adjusted regression analyses, we found associations between the PC1 genetic risk score and lower risks of CAD and T2D [CAD cases <50 years, odds ratio: 0.91 (95% confidence interval 0.87, 0.94) per SD; T2D cases <50 years, odds ratio: 0.76 (0.72, 0.81)], which attenuated with higher age (p-values 8.13E-4 and 2.41E-6, respectively). No associations were found for PC2.
CONCLUSIONS: The consistently observed weaker associations of the composite traits with cardiometabolic disease suggests the need for age-specific cardiometabolic disease prevention strategies.
The Bolus Delivery Arm Group 1 will receive injections at 2 visits scheduled 3 months apart. At each injection visit the patient will get one dose divided into 2 injections - one in the deltoid muscle of each arm.
Pulmonary arterial hypertension (PAH), which is defined as an elevation in pulmonary arterial pressure and pulmonary vascular resistance, is a severe hemodynamic abnormality common to a variety of diseases and syndromes. Elevation in pulmonary arterial pressure causes an increase in right ventricular afterload, impairing right ventricular function and ultimately leading to inactivity and death. The goal of PAH treatment is to lengthen survival time, to ameliorate symptoms of PAH and to improve health related quality of life (HRQOL).

Remodulin® (treprostinil sodium), a stable analogue of prostacyclin, possesses potent pulmonary and systemic vasodilatory and platelet anti-aggregatory actions in vitro and in vivo. Recently, Remodulin received FDA approval for intravenous therapy based upon bioequivalence of the IV and SC routes of administration. Remodulin is more chemically stable than epoprostenol and may offer potential safety and convenience advantages compared to intravenous epoprostenol that may impact Health Related Quality of Life (HRQOL) and/or patient satisfaction. Unlike epoprostenol, Remodulin does not need to be mixed daily and is stable at room temperature eliminating the need for ice packs. Furthermore, since Remodulin remains in the body longer than epoprostenol (4 hrs instead of less than 5 minutes) there is less risk of cardiovascular collapse from a sudden interruption of infusion, such as a line clog. In an open-label study in Europe, patients who were using a type of portable medication pump called the CADD Legacy pump were rapidly switched from Flolan to Remodulin with no serious side effects. This study will examine effects of switching from therapy with epoprostenol or Flolan to IV Remodulin and compare changes in HRQOL and treatment satisfaction before and after rapid switch from epoprostenol to Remodulin in patients with pulmonary hypertension using the CADD legacy pump.
Kimura disease (KD) is a rare chronic inflammatory disease that typically presents with soft subcutaneous granulomas in the head and neck regions characterized by elevated blood eosinophils and immunoglobulin E (IgE) level, whose aetiology remains poorly elucidated. Minimal change disease (MCD) has been reported as one of the renal manifestations that KD can present with, indicating that they may share a common pathology. Herein we describe a case of recurrent MCD associated with KD. During a follow-up period of 15 years, MCD recurred three times with increased disease activity of KD as reflected by flares of skin lesions and elevated peripheral eosinophils, and responded well to increased doses of prednisolone and cyclosporin. Notably, visual field defects in his right monocular vision appeared at the time of third recurrence of MCD, leading to the diagnosis of optic neuritis (ON). Optic nerve involvement associated with KD is extremely rare, and this case is noteworthy in that inflammation in the optic nerve was observed at the time of MCD recurrence with increased disease activity of KD, suggesting the existence of a common pathology between KD, MCD, and ON. In patients with KD, an imbalance of T helper (Th) cells with Th2 cells predominating over Th1 cells is observed, which results in hyperIgEemia and eosinophilia. This Th2-predominant immunological status in KD considered to predispose to MCD may also predispose to ON. MCD with a background of Th2-predominant immune state may require attention to the possibility of complication of ON.
Methods: After the baseline data of spontaneous breathing was collected, 20 hypercapnic recovering AECOPD patients were placed on different mode of noninvasive positive pressure ventilation(NPPV, such as the PAV or PSV mode) randomly. For each mode, three levels (PA-, PA, PA+or PS-, PS, PS+), ) of support were applied.PS and PA are set for the patient's comfort . On the basis of these two levels, 25% increase and reduction assisted level of pressure were set both for PS and PA (PA-, PA+or PS-, PS+). At each level, the patients were ventilated at least 20 minutes until the breathing was stable. The respiratory frequency (RR), tidal volume (VT), transdiaphragmatic pressure (pdi) the pressure-time product (PTP) and root-mean-square(RMS) of EMGdi were calculated. Esophageal and gastric balloon-catheters were used to detect the intra-thoracic and abdominal pressure. Airway pressure was also measured simultaneously. EMGdi was recorded from a multipair esophageal electrode .During ventilation Airflow and ventilation were measured with pneumotachograph.
The patient will start to administer: (1) daily subcutaneous injections of gonadotropins on day 1 of ovarian stimulation (2) daily oral capsules of natural micronized progesterone on day 1 of ovarian stimulation. Both medication will be stopped 1-2 days before egg retrieval.
Heart failure is the main cause of cardiovascular death. The primary goal of this study is to estimate the association of lifestyle behavior (e.g., alcohol, tea and coffee consumption, sedentary behavior, smoking habit, sleep disorder and physical activity), intermediate conditions (e.g., hypertension, diabetes and dyslipidemia), genetic risk factors and circulating biomarkers with heart failure prognosis. Another goal is to improve the health status and reduce cardiovascular events and death for heart failure patients via patient education, disease monitoring and medication titration. This study planned to consecutively enroll 1,000 heart failure patients fulfilling the inclusion criteria. Each participants will be followed up for at least 5 years. The study endpoints, all-cause mortality and cardiovascular events, will be identified by directly contacting participants during the follow-up surveys, checking pertinent medical records and discharge lists from the hospitals, or checking death certificates from local vital statistics offices. The Cox proportional hazard model will be used to estimate the risk factors for health outcomes in heart failure patients.
Acute liver failure caused by alcoholic hepatitis (AH) is only effectively treated with liver transplantation. Livers of patients with AH show a unique molecular signature characterized by defective hepatocellular redox metabolism, concurrent to hepatic infiltration of neutrophils that express myeloperoxidase (MPO) and form neutrophil extracellular traps (NETs). Exacerbated NET formation and MPO activity contribute to liver damage in mice with AH and predicts poor prognosis in AH patients. The identification of pathways that maladaptively exacerbate neutrophilic activity in liver could inform of novel therapeutic approaches to treat AH. Whether the redox defects of hepatocytes in AH directly exacerbate neutrophilic inflammation and NET formation is unclear. Here we identify that the protein content of the mitochondrial biliverdin exporter ABCB10, which increases hepatocyte-autonomous synthesis of the ROS-scavenger bilirubin, is decreased in livers from humans and mice with AH. Increasing ABCB10 expression selectively in hepatocytes of mice with AH is sufficient to decrease MPO gene expression and histone H3 citrullination, a specific marker of NET formation. These anti-inflammatory effects can be explained by ABCB10 function reducing ROS-mediated actions in liver. Accordingly, ABCB10 gain-of-function selectively increased the mitochondrial GSH/GSSG ratio and decreased hepatic 4-HNE protein adducts, without elevating mitochondrial fat expenditure capacity, nor mitigating steatosis and hepatocyte death. Thus, our study supports that ABCB10 function regulating ROS-mediated actions within surviving hepatocytes mitigates the maladaptive activation of infiltrated neutrophils in AH. Consequently, ABCB10 gain-of-function in human hepatocytes could potentially decrease acute liver failure by decreasing the inflammatory flare caused by excessive neutrophil activity.