anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
To date, only 13 studies have described patients with large overlapping deletions of 10p11.2-p12. These individuals shared a common phenotype characterized by intellectual disability, developmental delay, distinct facial dysmorphic features, abnormal behaviour, visual impairment, cardiac malformation, and cryptorchidism in males. Molecular cytogenetic analysis revealed that the deletion in this chromosomal region shares a common smallest region of overlap (SRO) of 80 kb, which contains only the WAC gene (WW-domain-containing adaptor with coiled coil). In this clinical case report, we report a 5-year-old girl, born from non-consanguineous parents, with a 10p11.22p11.21 microdeletion. She presents clinical features that overlap with other patients described in the literature, such as dysmorphic traits, speech delay, and behavioural abnormalities (hyperactivity), even though the WAC gene is not involved in the microdeletion. Our results are the first to highlight that the deletion described here represents a contiguous gene syndrome that is enough to explain the distinct phenotype but partially overlaps with the previous cases reported in the literature, even though the same genes are not involved. In particular, in this study, we speculate about the role of the WAC gene that seems to be associated with normal motor development. In fact, we found that our patient is the only one described in the literature with a large deletion in the 10p11.22p11.21 region without the involvement of the WAC gene deletion, and, interestingly, the patient did not have motor delay.
The present invention relates to conjugates comprising a chelator arranged for complexation of a radionuclide and a targeting moiety binding to LRRC15. For example, the conjugates according to the current invention can be targeted alpha therapeutics such as targeted thorium conjugates (TTCs), i.e. radioconjugates comprising an alpha emitter, such as  227 Th. The present invention further relates to sequence-defined antibodies binding LRRC15 and antigen-binding fragments thereof. Also provided are conjugates comprising these antibodies or functional fragments thereof. The antibodies, functional fragments and conjugates according to the current invention can be used to treat cancer and other disorders and conditions associated with the expression of LRRC15. Provided are pharmaceutical compositions and kits with instructions for use comprising the antibodies, functional fragments and conjugates according to the current invention. The invention further provides methods and tools to generate the antibodies, functional fragments and conjugates according to the invention. For example, provided are polynucleotides encoding the foregoing antibodies or fragments, vectors containing the same, and cells for production.
PURPOSE: A pharmaceutical composition and a health food containing a pine nut leaf extract are provided to effectively prevent or treat degenerative muscle diseases. CONSTITUTION: A pharmaceutical composition for preventing or treating degenerative muscle diseases contains a pine nut leaf extract as an active ingredient. The extract is prepared from pine nut leaves using water, C1-C4 alcohols, or a mixture thereof. The C1-C4 alcohol is ethanol. The extract is prepared by ultrasonic wave extraction, room temperature extraction, hot water extraction, enfleurage extraction, reflux extraction, or steam extraction. A health food for preventing or treating degenerative muscle diseases contains the extract as an active ingredient.
The patients (n=17) will receive daily intra and extra oral LED applications from the immediate postoperative period up to 7 days after the surgical procedure. The LED irradiation will be performed in two areas, one intra and one extra oral. The LED to be used in the intraoral site will be red, 660+/-20nm wavelength, 5 mW power, 2.7J/cm2 energy density for 7 min, 2J energy per point, knowing that the 6 irradiated spots will have 12J in total. In the extra oral site the infra-red LED will be used, 850+/-20nm wavelength, power of 5mW, 3.8J/cm2 of energy density for 10 min, 3J of energy per point, knowing that 36 will be irradiated, so we will have 108J in total.
PURPOSE:To facilitate the formation of seamless gel-like wall films by making combination use of org. polysiloxane as a film forming assistant at the time of dispersing a core material in a cyclohexane soln. contg. ethyl cellulose. CONSTITUTION:Ethyl cellulose and an org. polysiloxane compound are dissolved under heating in cyclohexane, and core material powder is dispersed therein.  Thence, this soln. is cooled to cause flocculation of ethyl cellulose, thereby forming  the gel-like wall films of ethyl cellulose enclosing the core material in the inside. Further these are solidified to form microcapsules. Dimethyl polysiloxane, silicone- glycol compolymer or the like of about 50-5,000,000cSt viscosities at 25 deg.C is  suitable as the org. polysiloxane compound.
Group A: will enrol 500 participants who have received 2 doses of inactivated SARS-CoV-2 vaccine according to national immunization planning, whose last dose was given at least 6 months ago. They will be given one dose of the study vaccine (SYS6006) after enrolment.
Abdominal Aortic Aneurysms have been traditionally repaired using the standard open surgical technique. The use of Endovascular stent grafts(EVAR) to treat aortic aneurysms has been ongoing for approximately 8-10 years. Use of EVAR to treat aortic aneurysms in high risk has been reported to be beneficial. However, the costs of this therapy are quite significant and therefore in order to best understand the cost effectiveness of this type of aneurysm treatment, an extensive prospective comparative evaluation is required. This study will compare outcomes and cost-effectiveness for patients receiving EVAR, with high surgical risk, and OSR, with low surgical risk, and OSR, where there is high surgical risk and not suitable for EVAR based on anatomical complexity. Demographic, medical, health care resource utilization, cost, and quality of life information is collected from participating patients over a period of a year following repair.
BACKGROUND: Up to 45% of febrile returning travellers remain undiagnosed after a thorough diagnostic work-up, even at referral centres. Although metagenomic next-generation sequencing (mNGS) has emerged as a promising tool, evidence of its usefulness in imported fever is very limited.
METHODS: Travellers returning with fever were prospectively recruited in three referral clinics from November 2017 to November 2019. Unbiased mNGS optimised for virus detection was performed on serum samples of participants with acute undifferentiated febrile illness (AUFI), and results were compared to those obtained by reference diagnostic methods (RDM).
RESULTS: Among 507 returned febrile travellers, 433(85.4%) presented with AUFI. Dengue virus (n = 86) and Plasmodium spp. (n = 83) were the most common causes of fever. 103/433(23.8%) AUFI remained undiagnosed at the end of the follow-up.Metagenomic next-generation sequencing unveiled potentially pathogenic microorganisms in 196/433(38.7%) AUFI. mNGS identifications were more common in patients with a shorter duration of fever (42.3% in ≤5 days vs 28.7% in >5 days, P = 0.005). Potential causes of fever were revealed in 25/103(24.2%) undiagnosed AUFI and 5/23(21.7%) travellers with severe undiagnosed AUFI. Missed severe aetiologies included eight bacterial identifications and one co-infection of B19 parvovirus and Aspergillus spp.Additional identifications indicating possible co-infections occurred in 29/316(9.2%) travellers with AUFI, and in 11/128(8.6%) travellers with severe AUFI, who had received a diagnosis through RDM. The most common co-infections detected in severe AUFI were caused by Gram-negative bacteria. Serum mNGS was unable to detect >50% of infectious diagnoses achieved by RDM and also yielded 607 non-pathogenic identifications.
DISCUSSION: mNGS of serum can be a valuable diagnostic tool for selected travellers with undiagnosed AUFI or severe disease in addition to reference diagnostic techniques, especially during the first days of symptoms. Nevertheless, mNGS results interpretation presents a great challenge. Further studies evaluating the performance of mNGS using different sample types and protocols tailored to non-viral agents are needed.
<P>PROBLEM TO BE SOLVED: To provide a menstrual pain relieving agent which is mainly orally ingested to relieve pain accompanying menstruation and improve menstrual molimen peculiar to women, thereby capable of obtaining improvement effect of Quality of Life (QOL).  <P>SOLUTION: There are provided a menstrual pain relieving agent and an oral menstrual pain relieving agent each containing an iron-bound type lactoferrin as an active ingredient. There is provided food and drink in which any of the relieving agents is blended. There is also provided a method of relieving menstrual pain by ingesting 10-6,000 mg of an iron-bound type lactoferrin per day. These relieve pain accompanying menstruation and improve menstrual molimen peculiar to women, thereby capable of obtaining improvement effect of QOL.  <P>COPYRIGHT: (C)2011,JPO&INPIT
Diabetic kidney disease (DKD) is the gradual loss of renal function occurring in patients with diabetes. Stromal cell-derived factor-1 (SDF-1, encoded by SDF-1 gene) is a chemokine that binds to its receptor, CXCR4, to mediate many aspects of renal biology. To test the potential impact of SDF-1/CXCR4 gene variations on the risk for DKD, single-nucleotide polymorphisms (SNPs) of SDF-1/CXCR4 genes were genotyped in 388 DKD patients and 335 DKD-free diabetic controls. Among 6 SNPs examined, we demonstrated that rs1801157 of SDF-1 gene was associated with an increased risk for DKD (GA vs GG, AOR=2.252, p=0.035; GA+AA vs GG, AOR=2.156, p=0.036). Further stratification revealed that the correlation of rs1801157 with DKD was particularly detected in diabetic patients with early CKD but not in those with severe renal impairment. Instead, another SNP of SDF-1 gene, rs266085, was found in association with the advanced form of DKD (TC vs TT, AOR=2.106, p=0.027; TC+CC vs TT, AOR=2.130, p=0.019), indicating differential impacts of SDF-1 gene polymorphisms on the progressive loss of renal function in diabetic patients. Moreover, preliminary survey of public gene expression datasets showed that rs1801157 and rs266085 modulated SDF-1 expression in many human tissues, and SDF-1/CXCR4 levels were elevated in renal tissues of DKD patients. These data suggest that allele-specific expression of SDF-1 gene may influence DKD progression.
HIV-infected women in South Africa report high rates of sexual trauma, which negatively impacts their mental health and potentially influences engagement in HIV care (retention in care and adherence to antiretroviral therapy) and risk behaviors. Addressing the traumatic stress resulting from sexual trauma could improve these HIV-related outcomes, which in turn may prevent HIV transmission through suppression of the virus and reduction in HIV risk behaviors. Intervention research among HIV-infected populations with trauma histories in the U.S. demonstrates that a coping approach, particularly one that reduces the use of avoidant coping strategies, is efficacious in reducing traumatic stress and improving health behaviors. Although South Africa faces dual epidemics of HIV and sexual violence, trauma treatment has not been well-integrated into the HIV care setting. The proposed 3-year study will develop and pilot test an intervention called ImpACT (Improving AIDS Care after Trauma) to reduce avoidant coping, traumatic stress, and risk behaviors, and increase engagement in care. The intervention will take place in a public ART clinic and will target women during the critical period when they initiate ART in order to maximize the impact on engagement in care. Qualitative data collection with staff, providers, and HIV-infected female patients at the study clinic will elicit feedback on the content and delivery of ImpACT and key aspects of the study protocol. ImpACT will then be piloted with 60 women who are new ART enrollees with a history of sexual trauma and elevated traumatic stress. Participants will be randomized to the control condition (standard of care, or SoC: 3 adherence counseling sessions required of all patients initiating ART at the clinic) or the intervention condition (SoC + ImpACT), and will complete assessments at baseline, 3, and 6 months post-randomization, with care engagement data extracted from medical records at the end of the study period. The study has three specific aims: 1) to develop a brief and scalable coping intervention for delivery in the South African HIV care setting for women with sexual trauma histories; 2) to establish the methodological details of an experimental protocol for a robust randomized control trial; and 3) to pilot test the ImpACT intervention with 60 HIV-infected women with histories of sexual trauma who are initiating ART in order to determine feasibility and acceptability in the HIV care setting, and explore the impact on avoidant coping, traumatic stress, engagement in care, and HIV risk behaviors. The goal at the completion of this study is to have a structured intervention curriculum that is culturally relevant for HIV infected women in South Africa, a full experimental protocol that is appropriate for the South African care setting, and data on feasibility, acceptability, and target outcomes. These products can be leveraged to inform an R01 application for rigorous evaluation of the ImpACT intervention. We are confident that this developmental work will significantly enhance the probability of success of a larger randomized control trial.
In placebo-controlled trials [see Clinical Studies (14)],  hallucinations were reported in less than 2% of patients treated with INBRIJA. Hallucinations may be responsive to reducing levodopa therapy. Hallucinations may be accompanied by confusion, insomnia, and excessive dreaming. Abnormal thinking and behavior may present with one or more symptoms, including paranoid ideation, delusions, hallucinations, confusion, psychotic-like behavior, disorientation, aggressive behavior, agitation, and delirium. 

Because of the risk of exacerbating psychosis, patients with a major psychotic disorder should ordinarily not be treated with INBRIJA. In addition, medications that antagonize the effects of dopamine used to treat psychosis may exacerbate the symptoms of Parkinson's disease and may decrease the effectiveness of INBRIJA  [see Drug Interactions (7.2)].
Although prophylaxis for more than one opportunistic infection is emerging as a common clinical practice in patients with advanced HIV disease, little is known about possible adverse drug interactions. The need exists to define pharmacokinetics and pharmacodynamic adverse interactions of the many combination prophylactic regimens that may be prescribed.

In Part A, patients receive sulfamethoxazole-trimethoprim (SMX/TMP) alone for 2 weeks, then in combination with fluconazole, rifabutin, or both drugs, each over 2-week periods in a randomly assigned order. Patients in Part B receive the same regimens except with clarithromycin substituted for rifabutin. In Part C, patients receive dapsone alone for 2 weeks, then in combination with fluconazole, rifabutin, or both drugs in the same manner as in Part A. Part D patients receive the same regimen as those in Part C, except with clarithromycin substituted for rifabutin. Patients are followed every 2 weeks.
This study is a randomized controlled trial (RCT) with an experimental condition (MAPs Mindfulness intervention) and an active control group (Health Education), using a pretest and immediate posttest research design. Both conditions are comprised of a 6-week group intervention, which will be administered at the UCLA Westwood Medical Campus. The sample (N=80) will be drawn from a population of adults (18-65 years old), residing within a 10mile radius of the UCLA Westwood Medical Campus. To determine initial eligibility, potential participants will self-select based on perceived high levels of stress. Participants will respond self-report questionnaires to assess for psychological symptoms and will be drawn blood samples (180ml total) to assess levels of pro inflammatory cytokines before and after the interventions. Participants will attend a total of 8 visits.
PROBLEM TO BE SOLVED: To provide a solid preparation suppressing sliminess feeling and feeling of adhesion to the oral cavity in taking, which is slippery, easily administrable for an infant, an aged and a patient of swallowing difficulty, or the like, and is easily producible by utilizing a conventional coating method. SOLUTION: The composition of the easily administrable solid preparation includes (a) 5-25 pts.wt. of a gelling agent, (b) 5-25 pts.wt. of a binder and (c) 40-90 pts.wt. of a sugar alcohol based on 100 pts.wt. of the total of a coating layer. The invention includes the solid preparation coated with the coating composition and the production method for the solid preparation by dissolving the coating composition in water, or the like, in the concentration of 3-50 wt.% of the coating composition per 100 pts.wt. of the solid content of the coating, coating the solid materials with the solution and then drying.
PURPOSE: A pharmaceutical composition containing triplinervia(Spreng.) Muell.Arg.(Euphorbiaceae) extract for preventing and treating asthma or inflammatory diseases is provided to suppress NO generation and cytokine secretion. CONSTITUTION: A composition for preventing and treating inflammatory diseases contains triplinervia(Spreng.) Muell.Arg.(Euphorbiaceae) extract as an active ingredient. The extract is isolated using water, low alcohol of C1-C4, or mixture thereof as a solvent. The low alcohol is ethanol or methanol. An external use skin formulation or cosmetic composition for preventing and treating inflammatory diseases contains the extract as an active ingredient.
MRG-001 will be administered subcutaneously at 0.01 mL/kg. Patients will receive 3 injections per week every other day for a total of 2 weeks or until discharge from the ICU.
Bupropion is a racemic mixture. The pharmacologic activity and pharmacokinetics of the individual enantiomers have not been studied.

Following chronic dosing of Aplenzin 348 mg Tablets, the mean peak steady-state plasma concentration and area under the curve of bupropion were 134.3 (± 38.2) ng/mL and 1409 (± 346) ng∙hr/mL, respectively. Steady-state plasma concentrations of bupropion were reached within 8 days. The elimination half-life (±SD) of bupropion after a single dose is 21.3 (± 6.7) hours.

In a study comparing 10-day dosing with Aplenzin Tablets 348 mg once daily and WELLBUTRIN XL Tablets 300 mg once daily, following a 3-day titration with once daily WELLBUTRIN XL® Tablets 150 mg, Aplenzin peak plasma concentration and area under the curve for bupropion and the 3 metabolites (hydroxybupropion, threohydrobupropion, and erythrohydrobupropion) were equivalent to WELLBUTRIN XL Tablets 300 mg, with the average being 8-14% lower.

In a single dose study, two Aplenzin Tablets 174 mg once daily and one Aplenzin Tablet 348 mg once daily were evaluated. Equivalence was demonstrated for peak plasma concentration and area under the curve for bupropion and the 3 metabolites.

Additionally, a multiple dose study compared 14-day dosing with Aplenzin Tablets 522 mg once daily to dosing with three Aplenzin Tablets 174 mg once daily, following a 3-day titration with one Aplenzin Tablet 174 mg once daily, and a succeeding 5-day titration with two Aplenzin tablets 174 mg once daily. Equivalence was demonstrated for peak plasma concentration and area under the curve for bupropion and the 3 metabolites.

These findings demonstrate that Aplenzin Tablets 174 mg, 348 mg and 522 mg are dose proportional. A 348 mg dose can be achieved by administering either one Aplenzin Tablet 348 mg or two Aplenzin Tablets 174 mg. A 522 mg dose can be achieved by administering either one Aplenzin Tablet 522 mg, three Aplenzin Tablets 174 mg, or one Aplenzin Tablet 174 mg plus one Aplenzin Tablet 348 mg.
The primary purpose of this study is to detect patterns of immune abnormalities in the colitis associated with Hermansky-Pudlak Syndrome (HPS). Additionally we aim to document the clinical response to and tolerance of conventional inflammatory bowel disease (IBD) therapy for HPS patients with active colitis associated with Hermansky-Pudlak Syndrome (HPS). HPS is a rare autosomal recessive disorder causing dysfunctional lysosome-related organelle formation and trafficking resulting in oculocutaneous albinism and a bleeding diathesis secondary to platelet dysfunction. Associated conditions include pulmonary fibrosis, IBD, and systemic ceroid deposition. The associated IBD has been reported to occur at a higher frequency in the HPS-1 and HPS-4 subtypes compared to the prevalence of IBD in non-HPS populations. HPS IBD has clinical features of both ulcerative colitis (UC) and Crohn's disease, but histologically resembles Crohn's disease in that granulomas are commonly seen in the mucosa of the intestine. The pathogenesis of HPS IBD is not fully understood and little data beyond descriptions of the clinical and histologic manifestations have been published. Furthermore reports on treatment of the colitis in HPS patients are largely anecdotal, and our own experience suggests that many patients may be under-treated.

HPS patients with active colitis will be enrolled into this prospective treatment study. Endpoints for the immunopathogenesis studies will include baseline measurements of and changes in immune cell populations, cytokine, and chemokine expression. In the blood and gut mucosa. Endpoints for the study of response to treatment will include changes in clinical, endoscopic, and histologic scores as well as the rate and severity of adverse events. Descriptive summary statistical analysis (n, mean, median, standard deviation, minimum and maximum range) and simple correlations of clinical response variables with immune parameters will be done.
The present invention provides a heterocyclic compound represented by General Formula (1). wherein R1 is a group R5-Z1-, etc., Z, is a lower alkylene group, etc., and R5 is a group represented by General Formula, wherein R13 is a hydrogen atom, etc.: m is an integer from 1 to 5, R2 is a hydrogen atom. Y is CH or N A1 is a heterocyclic ring selected from the group consisting of indolediyl groups, wherein the heterocyclic ring may have at least one substituent T is a group -CO-, etc.: R3 is a hydrogen atom, etc.: R4 is a lower alkyl group optionally substituted by one or more hydroxy groups, etc R3 and R4, together with the nitrogen atom to which they bind, may bind to each other and form a 5- to 10-membered saturated heterocyclic ring, wherein the heterocyclic ring may have at least one substituent. The heterocyclic compound of the present invention has excellent effects of suppressing the production of collagen and/or treating tumors
Patients receive cobimetinib PO QD on days 1-21 and enasidenib mesylate PO QD on days 1-28 of each cycle. Treatment repeats every 28 days for 12 cycles in the absence of disease progression or unacceptable toxicity.