anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
It is proposed to perform a pilot study to ask whether genetic variation at SERPINI1 is contributing to idiopathic autism. To maximize the chance of finding such variants, the perseveration and language delay endophenotypes (simpler intermediate traits) will be used to select twenty autistic multiplex (and if necessary singleplex) families with idiopathic autistic patients who have been evaluated with the Autism Diagnostic Interview-revised (ADI-R) and their nuclear families ( siblings and their parents) will be identified by Dr. Liptak and Dr. Lebel with the assistance of Ms Klausner and recruited. Patients with syndromic autism due to known causes such as fragile X syndrome, Tuberous sclerosis, Down syndrome, and Neurofibromatosis type I will be excluded. The entire SERPINI1 coding region (nine exons), one kilobase of promoter region (Chen, 2007) and at least 200 bp of intron flanking each exon will be sequenced in an index case and the segregation of mutations identified investigated within the families. All mutations that appear to be good functional candidates will be compared in frequency amongst autistic and control populations in order to determine if a case can be made that SERPINI1 could be contributing to autism. In addition, known neuroserpin SNPs identified through the Hapmap project (www.hapmap.org) will be investigated and tested for evidence of transmission distortion/disequilibrium by linkage/association analysis. Depending on the results from this initial experiment it is proposed to subsequently sequence up to a further 80 local autism patients (maximum of 100 patients). Additional studies would be performed as follow up studies to similarly sequence the genes of other serpins expressed in the brain; Plasminogen activator 1, PA1, SERPINE1 located at the MLS linkage peak at 7q22.1 seen in IMGSAC study (Lamb, 2002) while Proteinase nexin 1, PN1 SERPINE2 at 2q36.1,close to previously identified linkage peaks (Autism Genome Project consortium, 2007) and potentially their putative serine protease targets (tPA at 8p11.21 and uPA at 10q22.2) and the upstream neuroserpin activators (ALK6, AMH and BMP2) (Lebeurrier, 2008). tPA expression is increased by events that require synaptic plasticity (Yepes, 2002) and enhances NMDA receptor signaling by cleavage of its NR1 subunit (Pawlack, 2002). All interesting leads will be pursued by obtaining additional samples from the Autism Genetic Resource Exchange (AGRE)( www.agre.org), a publically available recourse of phenotypic data and bio-materials which provides diagnostic information and DNA from 100's of multiplex ASD families.
PROBLEM TO BE SOLVED: To obtain a metal-bound lactoferrin or metal-bound lactoferrin degradation product containing metals in large amounts. SOLUTION: This metal-bound lactoferrin contains a lactoferrin and plural kinds of metals bound to the lactoferrin in large amounts. A lactoferrin degradation product may be used in stead of this lactoferrin. The metals include trace metallic elements. The metal-bound lactoferrin is obtained by mixing a lactoferrin with metal (bi)carbonate salt solutions. The addition of the metal- bound lactoferrin to a medicine for supplying minerals, a drink, a food or a feed enables to supply the trace metallic elements without oxidizing oils and fats contained therein.
AIMS: Temporomandibular disorder can cause degenerative pathological changes by aseptic inflammation in the temporomandibular joint (TMJ). Vitamin D (VD) is known for maintaining calcium homeostasis, and recent studies indicated that VD and the vitamin D receptor (VDR) are important in inflammatory responses. In this study, we explored the anti-inflammatory effect of VD-VDR signaling axis in TMJ pathological degeneration.
MAIN METHODS: Mice ablated for Vdr (Vdr-/-res) were fed with a rescue diet to avoid hypocalcemia. With abnormal mechanical stimulation, unilateral anterior crossbite (UAC) induced temporomandibular disorders in mice. Histological staining, immunohistochemistry staining, and micro-CT analysis were performed to evaluate TMJ pathological changes. To identify the mechanisms in the aseptic inflammatory process, in vitro experiments were conducted on wild-type (WT) and Vdr-/- chondrocytes with compressive mechanical stress loading, and the related inflammatory markers were examined.
KEY FINDINGS: Vdr-/-res mice did not develop rickets with a high calcium rescue diet. The TMJ cartilage thickness in Vdr-/-res mice was significantly decreased with mechanical stress stimulation compared to WT mice. UAC-induced bone resorption was obvious, and the number of osteoclasts significantly increased in Vdr-/-res mice. The proliferation was inhibited and the gene expression of Il1b, Mmp3, and Mmp13 was significantly increased in Vdr-/- chondrocytes. However, WT chondrocytes showed significantly increased Tnfa gene expression as a response to mechanical stress but not in Vdr-/- chondrocytes.
SIGNIFICANCE: VD-VDR is crucial in TMJ pathological changes under abnormal mechanical stimulation. Deletion of Vdr exacerbated inflammatory response excluding TNFα, inhibited chondrocyte proliferation, and promoted bone resorption in TMJ.
OBJECTIVES: The current study compared the outcome after orthopaedic surgeries in patients with rheumatoid arthritis receiving Janus kinase inhibitors (JAKis) versus biologic disease-modifying anti-rheumatic drugs (bDMARDs).
METHODS: This was a retrospective observational study of Japanese patients with rheumatoid arthritis. Sixty-two patients with rheumatoid arthritis using JAKi preoperatively underwent orthopaedic surgeries. Using propensity score matching, these 62 patients were matched with 62 patients using bDMARDs preoperatively. The number of adverse events was counted. We also examined whether the drug-withholding period in the JAKi-treated group was associated with the occurrence of major postoperative adverse events, namely inflammatory flares and delayed wound healing.
RESULTS: JAKi-treated patients had a higher incidence of postoperative flares than bDMARD-treated patients (29% versus 12.1%, P = .01). The incidences of postoperative complications other than flares were not significantly different between the two groups. Among the JAKi-treated group, a longer perioperative drug-withholding period (≥11 days) was associated with a higher incidence of postoperative flares (P = .04). The incidences of delayed wound healing and surgical site infection were not associated with the duration of the JAKi-withholding period.
CONCLUSIONS: JAKi-treated patients had a higher incidence of postoperative flares than bDMARD-treated patients. A total of ≥11 days of drug withdrawal was associated with postoperative flares.
Male or female subjects between 17 to 70 (inclusive) years of age with severe persistent asthma meeting the inclusion criteria and having completed the screening period of 2 weeks will, in a proportion of 1:1, randomly receive fluticasone propionate 1mg via nebulizer BID or budesonide 2mg via nebulizer BID for a treatment period of 12 weeks. The clinic visit will be arranged at 2 weeks, 4 weeks, 8 weeks and 12 weeks during study treatment. If the subjects meet the criteria of pre-defined asthma control at treatment 4 weeks or 8 weeks, they will have one chance to be treated with the half dose of study drug. 2 weeks after completion of study treatment or after early withdrawal from study, the follow-up visit will be performed to assess the post-treatment adverse events. The primary endpoint is the mean change from baseline in morning peak expiratory flow (PEF) over the 12 week treatment period. Safety assessments include adverse events, vital signs, oral and oropharyngeal candidiasis, hematological, biochemical tests), 24-hour urinary cortisol and 12-lead ECG. The steady-state plasma pharmacokinetics of fluticasone propionate inhalation solution will also be assessed.
BACKGROUND & AIMS: Although non-alcoholic fatty liver disease (NAFLD) is becoming a leading cause of hepatocellular carcinoma (HCC), HCC risk in non-cirrhotic NAFLD received little attention. We aimed to develop and validate an HCC risk prediction model for non-cirrhotic NAFLD.
METHODS: A nationwide cohort of non-cirrhotic NAFLD patients in Korea was recruited to develop a risk prediction model and validate it internally (n = 409 088). A model using a simplified point system was developed by Cox proportional hazard model. K-fold cross-validation assessed the accuracy, discrimination and calibration. The model was validated externally using a hospital cohort from Asan Medical Center (n = 8721).
RESULTS: An 11-point HCC risk prediction model for non-cirrhotic NAFLD was developed using six independent factors of age, sex, diabetes, obesity, serum alanine aminotransferase level and gamma-glutamyl transferase level (c-index 0.75). The average area under receiver operating curves (AUROCs) of the model was 0.72 at 5 years and 0.75 at 10 years. In the external validation cohort, the AUROCs were 0.79 [95% confidence interval [CI], 0.59-0.95] at 5 years and 0.84 (95% CI, 0.73-0.94) at 10 years. The calibration plots showed the expected risks corresponded well with the observed risks. Risk stratification categorized patients into the low (score 0-6), moderate (7, 8) and high (9-11; estimated incidence rate >0.2%/year) risk groups.
CONCLUSIONS: A novel HCC risk prediction model for non-cirrhotic NAFLD patients was developed and validated with fair performance. The model is expected to serve as a simple and reliable tool to assess HCC risk and assist precision screening of HCC.
INTRODUCTION: Mucormycosis of the head and neck region is a rare but aggressive fungal infection that usually involves immunocompromised patients. More infrequently, this infection can also occur in people with no otherwise known underlying immunological deficit. This rarity usually causes a delay in diagnosis and may severely decrease the chance of survival in these patients. In this study, we present an extreme case of mucormycosis in an immunocompetent patient. By conducting a thorough review of the literature, we aim to increase our knowledge on this matter. Our goal is to improve diagnosis and start treatment at an earlier stage.
CASE PRESENTATION AND METHODS: Our patient was a 31-year-old man who presented with bilateral face numbness, neck pain, headache, and a necrotic palatal lesion 45 days after a dental root canal procedure. There was extensive involvement of facial and skull base bony and soft tissues. Through two debridement sessions and intravenous antifungal treatment, the patient was discharged with near-complete disease resolution. We identified 48 cases in the literature that matched our study criteria. We searched the current literature for proven cases of mucormycosis in the head and neck region who didn't have any underlying disease. We extracted their data and added the data of our patient. Then, we re-analyzed them using descriptive analysis, chi-square, and binary logistic regression to better understand the different factors for survival and disease burden in these patients.
RESULTS: 49 patients were analyzed in this study. The mean age was 46.93 ± 15.75 (min 16 and max78 years old). The most prevalent subsite to be involved was the sino-nasal mucosa, followed by the surrounding soft tissues and the orbit. While both orbit and intracranial tissue involvement differed significantly between surviving and deceased patients, only intracranial tissue involvement could be used to predict survival. The overall survival rate was 91.8%.
CONCLUSION: Although very rare, mucormycosis can occur in immunocompetent patients. Physicians should consider mucormycosis when faced with refractory conditions and unusual symptoms such as exposed bones, facial numbness, headaches, and intractable pain. Complementary imaging (CT scan with or without MRI) and histopathological examination are critical for timely diagnosis or exclusion of this potentially fatal yet treatable disease.
Tuberculosis (TB) remains the most important infectious disease in the world. Preventive treatment plays an important role in successful control of TB. For preventive therapy, alternative shortened courses such as 1-month daily rifapentine and isoniazid have been evaluated in HIV-infected individuals for its non-inferiority, safety and convenience compared with traditional monotherapy. And the treatment completion rate is higher. The investigators' previous study showed a 3-month weekly rifapentine and isoniazid regimen had a high protective efficacy but an unsatisfactory completion rate. Therefore, the investigators suppose that a one-month (12-dose) regimen of rifapentine and isoniazid (1RPT/INH) to be equivalent to a 3-month weekly rifapentine and isoniazid regimen with similar efficacy and higher completion rate. Relevant study is lacking in China where the TB burden is high with the incidence rate of 70/100, 000.

Silicosis is a risk factor of Mycobacterium tuberculosis infection. This is an open-label, non-randomized clinical trial to evaluate the efficacy and safety of the 1RPT/INH to prevent tuberculosis (TB) compared with those who do not receive preventive treatment among silicotic patients.
Methods and apparatus for treating a person's teeth are disclosed. In a firs t embodiment, a carrier which contains a catalyst and a mixture of an oxygen radical generating agent and a buffer is applied to a person's teeth. The person's teeth are then exposed to a light source. In another embodiment the carrier contains a mixture which includes an oxygen radical generating agent , a catalyst, and a buffer. In another embodiment, a mixture of an oxygen radical generating agent, a thickening agent, and a buffer is applied to a carrier. In another embodiment a mixture of bleaching agents, without a catalyst, is applied to a carrier which is applied to the patient's teeth. T he teeth are then exposed to a laser light. In another embodiment a non-woven, porous material is used as a carrier (10). The carrier (10) is dipped into a teeth whitening mixture (22) and then is applied to a person's teeth (12). I n other embodiments, the carrier (10) is coated or impregnated with a paste, gel, or solution which contains medicaments that decrease teeth sensitivity; medicaments that promote the repair or remineralization of tooth enamel; or therapeutic medicaments such as antibiotics.
Gestational diabetes mellitus (GDM) is one of the most complications during pregnancy and it is associated with many adverse outcomes especially when the pregnant women can't control blood glucose well. With economy develop rapidly, the occurence of GDM is about 15-20%. Recently, the research on GDM has gone into the molecular level, which is beneficial to diagnosis and treatment on GDM. Besides, the cost of hospitalization and treatment for adverse outcomes caused by GDM have caused a certain burden to pregnant women, their families and the whole country. Lifestyle management has the first-line for treatment on GDM, however, the situation of self-management on GDM isn't satisfactory. Therefore, our study aims to explore a model to predict GDM in advance and reduce the adverse outcomes and economy associated with GDM.

The study plan to enroll 60 participants with hisk-risk of GDM and 40 normal participants. They are required sign the inform consent after deciding to participate the research. Furthermore, during early pregnancy (8-13 weeks), middle pregnancy (24-27 3 weeks) and late pregnancy (32-36 weeks), 6-8 weeks after delivery, blood, feces, urine, saliva samples were collected, and continuous blood glucose monitoring system were equipped, human component testing was performed. Follow up was performed to collect the first stool sample of the mother after delivery and faecal samples from the first to the fifth time after birth (the first five times within one week after birth, including hospitalization and discharge) .
Within days -28 to -4, patients receive fludeoxyglucose F-18 IV and after 60 minutes undergo PET scan over 15 minutes. After 18-54 hours, patients undergo a second fludeoxyglucose F-18 PET scan. Patients then receive osimertinib PO QD on days -3 to -1 and after 24-72 hours, undergo a third fludeoxyglucose F-18 PET scan. Patients then receive osimertinib PO QD on days 1-28. Courses repeat every 28 days in the absence of disease progression or unacceptable toxicity.
For long term prophylaxis, the recommended starting dose is 50 IU of factor VIII per kg body weight at intervals of 3 to 5 days. The dose may be adjusted based on patient response in the range of 25 to 65 IU/kg. In some cases, especially in younger patients, shorter dosage intervals or higher doses may be necessary.
Spinal anesthesia is the main technique for caesarean section. This anesthesia is followed by a hypotension in 40% to 90% despite preventing tools (fluid challenge and vasoactives drugs). Hypotension is responsible of foetale and maternal suffering. Fluid challenge is able to upgrade cardiac output for some patient, for some other it is unusefull or it can deteriorate it. Actually fluid challenge is not individualized. It would be interesting to have a tool that could detect patient who are at risk to have hypotension.

Trans thoraciq echography is an easy non invading tool. Dynamic criteria which is recognized for predicting vascular filling , with spontaneus breathing, is the passive leg rising (PLR). PLR mime à vascular filling of 500 ml. Modification of this cardiac outpout is measured whith the echocardiograph. This consist in measuring variations of under aortic velocity peak (ΔITVAo) which estimate the modification of the cardiac output.
Dermatofibrosarcoma Protuberans (DFSP) is a cutaneous soft tissue sarcoma. It is characterized by a translocation of chromosomes 17 and 22 that results in the fusion of the collagen type 1 alpha 1 gene and the PDGF B gene. 

An open-label, multicenter, Phase 2 study was conducted testing imatinib mesylate in a diverse population of patients with life-threatening diseases associated with Abl, Kit or PDGFR protein tyrosine kinases. This study included 12 patients with DFSP who were treated with imatinib mesylate 800 mg daily (age range, 23 to 75 years). DFSP was metastatic, locally recurrent following initial surgical resection and not considered amenable to further surgery at the time of study entry. A further 6 DFSP patients treated with imatinib mesylate are reported in 5 published case reports, their ages ranging from 18 months to 49 years. The total population treated for DFSP therefore comprises 18 patients, 8 of them with metastatic disease. The adult patients reported in the published literature were treated with either 400 mg (4 cases) or 800 mg (1 case) imatinib mesylate daily. A single pediatric patient received 400 mg/m2/daily, subsequently increased to 520 mg/m2/daily. Ten patients had the PDGF B gene rearrangement, 5 had no available cytogenetics and 3 had complex cytogenetic abnormalities. Responses to treatment are described in Table 25.

Table 25: Response in DFSP 

Twelve of these 18 patients either achieved a complete response (7 patients) or were made disease free by surgery after a partial response (5 patients, including one child) for a total complete response rate of 67%. A further 3 patients achieved a partial response, for an overall response rate of 83%. Of the 8 patients with metastatic disease, five responded (62%), three of them completely (37%). For the 10 study patients with the PDGF B gene rearrangement, there were 4 complete and 6 partial responses. The median duration of response in the Phase 2 study was 6.2 months, with a maximum duration of 24.3 months, while in the published literature it ranged between 4 weeks and more than 20 months.
Subjects will receive subcutaneous (SQ) BNP bid for seven consecutive days. The initial starting dose was 5 micrograms/kg.
The control group consists of children over 6 years old or adult patients, followed routinely in the ophthalmology department of the Edouard Herriot Hospital, Lyon (Pr Kodjikian) not suffering from genetic hypocholesterolemia and requiring a fundus examination as part of the usual follow-up of their ocular pathology, if this pathology does not interfere with the macular pigment density. An additional measurement of the macular pigment density will be made during this examination. The control group is only needed for the macular pigment analysis. No control group is considered for the characterization of plasma lutein and zeaxanthin deficiency and for the analysis of oxidative stress, so there will be no additional blood sampling for control patients.
Patients receive induction chemotherapy with docetaxel-based, with or without cisplatin or fluorouracil. Treatment repeats every 21 days for 3 courses. Then, patients receive cisplatin on day 1 day 21, 3 weeks as one cycle and undergo concurrent radiotherapy once daily, 5 days a week, for 6 to 7 weeks.
Breast cancer cells grow in a low oxygen environment called hypoxia. The body normally controls the amount of oxygen in cells with what is known as Hypoxia-inducible factor (HIF)-1. HIF-1 helps cancer cells grow in low oxygen environments; therefore, if this function can be blocked, it may make it harder for breast cancer cells to grow. Digoxin is a drug that has been shown to block HIF-1 in lab studies. The investigators want to learn if it blocks HIF-1 in human breast cancer tissue. This will be done by comparing the tumor tissue from the original diagnostic biopsy to tissue that is taken at the time of surgery. The investigators will also be comparing tumor tissue of patients who are not randomized to take digoxin.
Patients who were diagnosed or possibly diagnosed with Wilson's disease. The diagnosis can be made or possibly made on the basis of Wilson's disease scoring system proposed by the Working Party at the 8th International Meeting on Wilson's disease, Leipzig 2001.
PROBLEM TO BE SOLVED: To obtain an additive comprising an α-lipoic acid and/or its enantiomer and/or its derivative, useful for homologous and autologous erythrocyte concentration, showing effects on prolongation of storage period, functionality improvement and recovery of erythrocyte having nontoxicity. SOLUTION: This additive comprises a D,L-α-lipoic acid and/or its enantiomer and/or its derivative (e.g. dihydrolipoic acid) as an active ingredient and is useful for homologous and autologous erythrocyte concentration. The additive is useful for preserving erythrocytes in a liquid state at 4 deg.C. The additive is useful for preserving erythrocytes in a frozen state at -70 deg.C to -90 deg.C (glycerol method) and at -196 deg.C/-140 deg.C liquid nitrogen (vapor-phase Haes method). The concentration of the additive in a blood pack is 10 μmol to 1 millimol, especially 100 μmol. The use of the additive can avoid the change of blood viscosity and cell fluidity. The additive can retain its effects even after a long storage period of about 60 days and can maintain its effects even after freezing and melting.
Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive, fibrotic interstitial lung diseases, which mainly existed in middle-aged and elderly people. The accumulation of reactive oxygen species (ROS) is a common characteristic of IPF. Previous research also shown that lactate levels can be abnormally elevated in IPF patients. Emerging evidence suggested a relationship between lactate and ROS in IPF which needs further elucidation. In this article, we utilized a mouse model of BLM-induced pulmonary fibrosis to detect alterations in ROS levels and other indicators associated with fibrosis. Lactate could induce mitochondrial fragmentation by modulating expression and activity of DRP1 and ERK. Moreover, Increased ROS promoted P65 translocation into nucleus, leading to expression of lung fibrotic markers. Finally, Ulixertinib, Mdivi-1 and Mito-TEMPO, which were inhibitor activity of ERK, DRP1 and mtROS, respectively, could effectively prevented mitochondrial damage and production of ROS and eventually alleviate pulmonary fibrosis. Taken together, these findings suggested that lactate could promote lung fibrosis by increasing mitochondrial fission-derived ROS via ERK/DRP1 signaling, which may provide novel therapeutic solutions for IPF.