anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
BACKGROUND: KAT6A (Arboleda-Tham) syndrome is a Mendelian disorder of the epigenetic machinery caused by pathogenic variants in the lysine acetyltransferase 6 A (KAT6A) gene. Intellectual disability and speech/language impairment (e.g., minimally verbal) are common features of the disorder, with late-truncating variants associated with a more severe form of intellectual disability. However, much of the cognitive phenotype remains elusive given the dearth of research.
PARTICIPANTS AND METHODS: This study examined non-verbal and social skills of 15 individuals with molecularly-confirmed diagnoses of KAT6A syndrome (Mean age = 10.32 years, SD = 4.12). Participants completed select subtests from the DAS-II, the NEPSY-II, and the Beery Buktenica Developmental Test of Visual Motor Integration 6th Edition, and their caregivers completed an assortment of behavior rating inventories.
RESULTS: Findings suggest global cognitive impairment with nonverbal cognition scores similar to those for receptive language. Autism-related features, particularly restricted interests and repetitive behaviors, and broad adaptive deficits were common in our sample juxtaposed with a relatively strong social drive and low frequency of internalizing and externalizing behavioral problems. A general trend of lower performance scores on nonverbal and receptive language measures was observed among those with protein-truncating variants vs. missense variants; however, no effect was observed on caregiver rating inventories of daily behaviors. Late and early truncating variants yielded comparable neuropsychological profiles.
CONCLUSIONS: Overall, study results show the cognitive phenotype of KAT6A syndrome includes equally impaired nonverbal cognition and receptive language functioning, paired with relatively intact social drive and strengths in behavior regulation. Emergent genotype-phenotype correlations suggest cognition may be more affected in protein-truncating than missense mutations although similar neurobehavioral profiles were observed.
BACKGROUND Pelvic inflammatory diseases and tubo-ovarian abscesses (TOAs) are rarely seen in non-sexually active (NSA) women. While the pathogenesis of TOA remains unclear, its risk factors include ascending infection of the genital tract, gastrointestinal tract translocation, congenital genitourinary anomalies, as well as virulence of the causative agents, with preceding bacteremia and septicemia. CASE REPORT Herein, we present the case of a 25-year-old female patient who was initially diagnosed with ovarian torsion and underwent diagnostic laparoscopy. Her intraoperative findings included bilateral TOAs and adhesions. Owing to this uncommon presentation, further investigation was conducted, including postoperative computed tomography. The results showed a likelihood of a perforated appendix, with a repeat laparoscopy confirming this diagnosis. Appendectomy and drainage were done. The microbial culture from the ovarian abscess revealed Streptococcus constellatus, a commensal organism found in the oral, gastrointestinal, and urogenital flora. This microorganism is rarely isolated as a pathogenic organism in immune-competent populations. Furthermore, the histopathology report of the appendix showed a rare occurrence of chronic active diverticulitis, with perforation and peri-appendicitis. CONCLUSIONS TOA in NSA women should be considered when evaluating differential diagnoses, with the possibility of infection with an atypical organism. Broad-spectrum antibiotics or multidrug therapy should be administered. When suspicion is raised, an imaging study with a broader view to detect the pathology of other organ systems is recommended. Lower abdominal pain in young female patients still poses a diagnostic dilemma and should be investigated; however, when the clinical presentation suggests a gynecological emergency, the time frame can pose challenges.
An enlarged iliopectineal bursa (IB) can cause pressure on iliofemoral veins. Clinical presentation can manifest as asymmetrical lower extremity edema. This case report demonstrates extensive asymmetrical leg edema caused by femoral vein compression based on iliopectineal bursitis (IB-itis) associated with advanced osteoarthritis (OA) of the left hip joint with an outline of relevant current literature. A female patient presented with left hip pain and edema in the leg. X-ray showed severe OA of the left hip. Computed Tomography (CT) concluded a cystic abnormality at the left iliopsoas muscle associated with the joint consistent with IB-itis, associated with a degenerative left hip joint. Hybrid total hip replacement was performed. At three-month follow-up her left leg showed no longer signs of extensive edema and she walked without the use of walking aids. IB-itis is mostly associated with rheumatoid arthritis (RA). There are no reports which only describe OA as cause of IB-itis. Extensive asymmetrical leg edema can be caused by venous compression of the femoral vein by an IB-itis. If the latter is the consequence of advanced hip OA, a total hip replacement can yield excellent clinical outcomes both functionally and with regard to the edema.
The invention relates to an implant material composition for restoring bone tissue in a human or animal body. Said compo-sition comprises a particulate biocompatible bone tissue sub-stitute material distributed in a bioacceptable mixture of a) a water-based liquid and b) a monoglyceride and optionally c) a triglyceride, said ingredients a), b) and c) forming an L2-phase or a lamellary liquid crystalline phase and being present in such proportions within said phases that they are capable of being transformed into a cubic liquid crystalline phase or a reversed hexagonal liquid crystalline phase when contacted with an aqueous liquid. Thus, the phase conversion referred to imparts to the composition such a high viscosity that is works as an implant material as defined.  There is also provided a method of preparing said com-position comprising forming the L2 or lamellary phase and distributing the bone tissue substitute material therein.      Moreover, there is provided a method of restoring lost bone tissue comprising applying the composition to a bone cavity and converting the same by contact with an aqueous liquid.      The composition for use as an implant material compo-sition as well ae the use thereof for the manufacture of an implant product are also provided.      Finally the invention relates to the restored implant bone tissue product obtainable from said composition by con-tact with said aqueous liquid.
BACKGROUND: When comparing outcomes after sepsis, it is essential to account for patient case mix to make fair comparisons. We developed a model to assess risk-adjusted 30-day mortality in the Michigan Hospital Medicine Safety sepsis initiative (HMS-Sepsis).
RESEARCH QUESTION: Can HMS-Sepsis registry data adequately predict risk of 30-day mortality? Do performance assessments using adjusted vs unadjusted data differ?
STUDY DESIGN AND METHODS: Retrospective cohort of community-onset sepsis hospitalizations in the HMS-Sepsis registry (April 2022-September 2023), with split derivation (70%) and validation (30%) cohorts. We fit a risk-adjustment model (HMS-Sepsis mortality model) incorporating acute physiologic, demographic, and baseline health data and assessed model performance using concordance (C) statistics, Brier scores, and comparisons of predicted vs observed mortality by deciles of risk. We compared hospital performance (first quintile, middle quintiles, fifth quintile) using observed vs adjusted mortality to understand the extent to which risk adjustment impacted hospital performance assessment.
RESULTS: Among 17,514 hospitalizations from 66 hospitals during the study period, 12,260 hospitalizations (70%) were used for model derivation and 5,254 hospitalizations (30%) were used for model validation. Thirty-day mortality for the total cohort was 19.4%. The final model included 13 physiologic variables, two physiologic interactions, and 16 demographic and chronic health variables. The most significant variables were age, metastatic solid tumor, temperature, altered mental status, and platelet count. The model C statistic was 0.82 for the derivation cohort, 0.81 for the validation cohort, and ≥ 0.78 for all subgroups assessed. Overall calibration error was 0.0%, and mean calibration error across deciles of risk was 1.5%. Standardized mortality ratios yielded different assessments than observed mortality for 33.9% of hospitals.
INTERPRETATION: The HMS-Sepsis mortality model showed strong discrimination and adequate calibration and reclassified one-third of hospitals to a different performance category from unadjusted mortality. Based on its strong performance, the HMS-Sepsis mortality model may aid in fair hospital benchmarking, assessment of temporal changes, and observational causal inference analysis.
Subarachnoid hemorrhage (SAH) is a prevalent and morbid condition (45%-30 day mortality). One of the major causes of reduced cerebral blood flow (CBF) after initial SAH is cerebral vasospasm. Early treatment of cerebral vasospasm (\< 2 hr) is necessary for improved neurologic outcome. Hence, there is significant interest in development of a monitor. The most common bedside diagnostic tool is Transcranial Doppler (TCD) which is controversial given its low sensitivity and specificity. TCD is not a continuous monitor and is user dependent. Many centers rely on Cerebral Angiography for diagnosis of vasospasm; however angiographic spasm does not correlate with outcome. EEG can detect changes in cerebral blood flow which precede clinical decline but is technically difficult to perform and not practical for continuous monitoring.

Processed EEG monitors have become somewhat popular in the operating setting for assessment of depth of anesthesia. The recent introduction of bilateral 4 channel disposable probes presents to opportunity to use EEG as a non-invasive continuous monitor for vasospasm. We propose a prospective observational study to assess real time changes in raw and processed EEG which we will correlate with clinical and radiologic evidence of vasospasm. Our primary clinical endpoint will be the determination of delayed cerebral ischemia. This modality could prove to be a significant clinical advantage for patients suffering from SAH.
FIELD: medicine, biochemistry. SUBSTANCE: product - peptides of the general formula N-acetyl-D-Met-Pro-Arg-R, where R - H or Gly-Gly-NH. Synthesis of tetrapeptides is carried out by peptide condensation reaction of dicyclohexylcarbodiimide with addition of hydroxybenzotriazole. Boc-Pro-Arg is condensed with glycylamide, and obtained tripeptide is deblocked by treatment with HCl in ethylacetate. Corresponding tetrapeptide is obtained by reaction of N-acetyl-D-methionine with Pro-Arg-Gly-Pro-Arg-Gly-NHin the presence of substances indicated above. These peptides show enhanced stimulating action in relation to memory, motor activity at the doses by 10-100-fold less as compared with that of vasopressin. EFFECT: diminished toxicity, enhanced behavioral activity of peptides indicated above.
BACKGROUND: Aseptic loosening is the most common mode of failure after total knee arthroplasty. Despite this, the diagnosis often remains challenging and mainly relies on imaging modalities. Until today, no biomarker exists to aid in diagnosing loosening of the implants. As zirconium (Zr) is often found in bone cement, where it serves as radiopacifier, this study aimed to establish Zr as a synovial biomarker for loosened cemented knee prostheses.
METHODS: A total of 31 patients scheduled for revision of a cemented knee prostheses were included. In all patients, the initial used cement contained Zr. After arthrotomy, specimens of synovial fluid were taken and levels of Zr were measured by inductively coupled plasma mass spectrometry. Depending on the necessary amount of force for explantation, the implants were graded "loose" or "well-fixed". Preoperative radiographs were evaluated by 2 independent physicians.
RESULTS: The concentration of Zr in the synovial fluid differed significantly (P < .001) between the "loose" (mean 170.9 μg/L, range 0 to 1941 μg/L) and the "well-fixed" (mean 0.6 μg/L, range 0 to 6 μg/L) implants. The receiver operating characteristic analysis revealed 0.25 μg/l as an optimal cutoff value leading to a sensitivity of 0.84, a specificity of 0.92, a positive predictive value of 0.94, and a negative predictive value of 0.79. There was no significant difference in the diagnostic performance compared to radiographs (P = .66).
CONCLUSIONS: Zirconium proved to be a reliable novel synovial biomarker for diagnosing aseptic loosening of knee prothesis fixed with cement containing Zr. This biomarker should not be interpreted in isolation, but in combination with existing diagnostic tools.
The correct categorization of breast density is essential to adapt the diagnostic examination to the needs of each patient. Assessment of breast density is performed visually by radiologists. Some authors have detected that this method involves considerable intra and interobserver variability. On the other hand, automated systems for measuring breast density are becoming more and more frequent. Consequently, in clinical practice, breast density is reported from the assessment carried out by specialists with the support of these systems. But there are few studies about the use, concordance and perception of usefulness of professionals on these tools. A study carried out at the Hospital Italiano de Buenos Aires reported a moderate to almost perfect inter- and intra-observer agreement among radiologists and a moderate concordance between the categorization carried out by experts and that carried out by commercial software of a digital mammography machine. Machine learning is a domain of Artificial Intelligence, which comprises the process of developing systems with the ability to learn and make predictions using data. Once a system designed to aid healthcare professional decision making is developed, it must be validated. In 2019, an internal validation of a tool based on deep learning techniques was carried out for the automatic categorization of mammographic breast density. The tool reached a very good interobserver agreement, kappa = 0.64 (95% CI 0.58-0.69), when compared with the performance of the professionals. It reached a sensitivity of 83.2 (CI: 76.9-88.3) and a specificity of 88.4 (83.9-92.0.) In the present work, the multicenter study of external validation of a tool based on deep learning for the categorization of mammographic breast density is proposed. The evaluation of this tool will be carried out in two external institutions: Hospital Alemán and Fundación Científica del Sur.
The invention relates to the technical field of medicines, and specifically relates to a medicine used for treating infantile enuresis. The medicine is composed of the materials of, by weight, 7g of raspberry, 2.5g of tatarinow sweetflag rhizome, 10g of raw common yam rhizome, 5g of milkwort root, 10g of gordon euryale seed, 10g of medlar, 8g of sharpleaf galangal fruit, and 13g of cherokee rose fruit. According to the invention, the medicine materials are mixed and rapidly washed; the medicine materials are soaked for 2h, and are boiled three times, 30min each time; the obtained mixture is filtered, and a filtrate is concentrated; and the filtrate is prepared into particles according to a conventional traditional Chinese medicine preparation method. When in used, according to the weight of children, particles corresponding to 1g/kg of the medicine materials are taken once, and the particles are taken three times a day. The medicine provided by the invention is used for treating infantile enuresis, and has the functions of spleen invigorating, brain refreshing, kidney tonifying, qi promoting, and urine astringing. The medicine is clinically applied for treating 39 patients, 38 patients are cured, and 1 patient provides no feedback. The curative rate is 97.4%.
Aneurysm of the abdominal and thoracic aorta represents a major cause of cardiovascular morbidity and mortality. The course of this condition can stay asymptomatic for long, and its first manifestation can be acute rupture of the aneurysm sac with life-threatening bleeding. Detection of patients at risk and their early treatment significantly reduce the percentage of this potentially lethal complications.

Aortic diseases are most often degenerative processes with a varying involvement of genetic predisposition. In literature, a substantial number of genes were proved to affect the metabolism of the vessel wall and to determine production of structural proteins, which were associated with the vascular pathologies. Pathophysiologic mechanisms of lesions of the aortic wall have not been completely understood. Among other, they include endothelial dysfunction, chronic inflammation of the vessel wall, apoptosis of smooth muscle cells and degradation of the extracellular matrix, resulting in the loss of integrity of layers of the vessel wall and decrease in its strength, which leads to dilation, rupture or dissection. Apart from mutations in genes coding the structural proteins of the vessel wall, many other potential biomarkers were proposed for early diagnosis of aortic aneurysm. These include microRNA (miRNA), one-fibre chains of non-coding ribonucleic acid which are several nucleotides long and are involved in the gene expression through the mechanism of inhibition of mRNA translation or increase in its degradation. Recently, association of levels of these miRNAs to presence and growth of aortic aneurysms has been described.
Patients receive paclitaxel IV over 3 hours and carboplatin IV over 30 minutes on day 1 and temsirolimus IV over 30 minutes on days 1 and 8. Treatment repeats every 21 days for 6 courses in the absence of disease progression or unacceptable toxicity.
PURPOSE: A composition containing microRNA for enhancing radiosensitivity is provided to be used in an anticancer aid. CONSTITUTION: A pharmaceutical composition for enhancing radiation to cancer cells contains miRNA-302d of sequence number 1 or miRNA-196b of sequence number 2 as an active ingredient. An expression vector for intracellular transduction contains miRNA-302d or miRNA-196b. The expression vector is a linear DNA, plasmid DNA, or recombinant virus vector. The recombinant virus is lentivirus, retrovirus, adenovirus, adeno-associated virus, or herpes simplex. An anticancer aid contains the miRNA-302d or miRNA-196b as an active ingredient.
Subjects received at Day 0 one dose of FluLaval®-YB vaccine containing the Yamagata B flu strain. The FluLaval®-YB vaccine was administered intramuscularly in the deltoid region of the non-dominant arm.
This study performed advanced toxicological assessments of the new substance AP-238 using nine 'green' in silico methods, focusing on acute toxicity, organ-specific effects, skin and eye irritation, genetic toxicity, and cardiotoxicity. A quantitative assessment of AP-238's acute toxicity (AT) was performed by predicting theoretical LD50 values for both rats and mice across different administration routes using various in silico methods. Results indicated the highest toxicity via intravenous administration in mice, with a t-LD50 of 53 mg/kg, while oral administration in rats exhibited a lower toxicity range, with t-LD50 values between 666.43 and 1838.77 mg/kg, depending on the predictive model used. The identification of toxicophores (the fragment connecting the benzene ring to the piperazine ring, including the α, β, and γ carbon atoms near the nitrogen atom) in AP-238 suggests a high likelihood of lung toxicity (61%), with additional risks to the cardiovascular (58%) and renal systems (56%), emphasizing specific molecular fragments associated with these adverse effects. Genotoxic evaluations presented a mixed view, with low to moderate probabilities of a positive Ames test, suggesting some uncertainty but generally indicating a reduced risk of genetic toxicity. Eye and skin irritation risks were deemed minimal, supported by several models with high confidence. Cardiotoxicity assessments revealed varied information on the potential effects of AP-238 on the hERG channel, with some studies suggesting a nonsignificant impact, while others indicated moderate risk, although with low reliability in the predictions. This highlights the nuanced challenges in assessing the safety of novel substances through 'green' in silico methods.
BACKGROUND: The triglyceride-glucose (TyG) index is a reliable surrogate marker of insulin resistance and previous studies have confirmed the association of TyG index with incident chronic kidney disease (CKD). However, the impact of longitudinal patterns of TyG index on CKD risk among non-diabetic population is still unknown. Therefore, this study aimed to investigate the association of longitudinal patterns of TyG index with incident CKD among non-diabetic population.
METHODS: A total of 5484 non-diabetic participants who underwent one health examination per year from 2015 to 2017 were included in this prospective study. TyG index variability and cumulative TyG index were calculated to assess the longitudinal patterns of TyG index. Cox proportional hazard models were performed to estimate the association of TyG index variability or cumulative TyG index with incident CKD.
RESULTS: During a median of 3.82 years follow-up, 879 participants developed CKD. Compared with participants in the lowest quartile, the hazard ratio (HR) and 95% confidence interval (CI) of incident CKD were 1.772 (95% CI: 1.453, 2.162) for the highest TyG index variability quartile and 2.091 (95% CI: 1.646, 2.655) for the highest cumulative TyG index quartile in the fully adjusted models. The best discrimination and reclassification improvement were observed after adding baseline TyG, TyG index variability and cumulative TyG index to the clinical risk model for CKD.
CONCLUSIONS: Both TyG index variability and cumulative TyG index can independently predict incident CKD among non-diabetic population. Monitoring longitudinal patterns of TyG index may assist with prediction and prevention of incident CKD.
PURPOSE: There is no consensus in the current literature on the analgesic role of duloxetine after total hip arthroplasty (THA) or total knee arthroplasty (TKA). Thus, we designed this meta-analysis to reveal the analgesic effectiveness and safety of duloxetine in TKA or THA.
METHODS: As of October 2022, two authors (L.C. and W.Q.J.) independently searched five main databases (EMBASE, Web of Science, PubMed, Cochrane Library, and Google Scholar) to find relevant studies. Duloxetine vs. placebo in randomized controlled trials (RCTs) for THA or TKA were included. We set perioperative total opioid consumption as the primary outcome. Secondary outcomes included resting or dynamic pain scores over time, gastrointestinal adverse events, neurological adverse events, and other adverse reactions.
RESULTS: Eight RCTs with 695 patients were incorporated in our study. This meta-analysis showed high evidence that duloxetine was effective in reducing perioperative opioid consumption (Standard mean difference [SMD] = - 0.50, 95% confidence intervals [CI]: -0.70 to - 0.31, P < 0.00001) and low to moderate evidence that duloxetine could reduce pain within three weeks after surgery. Low to high evidence showed no differences between the two groups for most adverse events. Substantial evidence suggests that duloxetine can reduce nausea and vomiting after surgery (Risk ratio [RR] = 0.69, 95% CI: 0.50 to 0.95, P = 0.02, I2 = 4%). However, moderate evidence suggested that duloxetine might be associated with increased postoperative drowsiness (RR = 1.83, 95% CI: 1.08 to 3.09, P = 0.02, I2 = 0%).
CONCLUSION: Duloxetine reduced overall opioid consumption in the perioperative period and relieved pain within three weeks after surgery without increasing the risk of adverse drug events. Duloxetine can be part of a multimodal management regimen in patients with THA and TKA.