anthonyyazdaniml/gliner-biomed-curated-corpus huggingface dataset:
A relevant percentage of breast cancers (BCs) are tied to pathogenetic (P)/likely pathogenetic (LP) variants in predisposing genes. The knowledge of P/LP variants is an essential element in the management of BC patients since the first diagnosis because it influences surgery and subsequent oncological treatments and follow-up. Moreover, patients with metastatic BCs can benefit from personalized treatment if carriers of P/LP in BRCA1/2 genes. Multigene panels allow the identification of other predisposing genes with an impact on management. Cascade genetic testing for healthy family members allows personalized preventive strategies. Here, we review the advances and the challenges of Cancer Genetic Counseling (CGC). We focus on the area of oncology directed to hereditary BC management describing the peculiar way to lead CGC and how CGC changes over time. The authors describe the impact of genetic testing by targeted approach or universal approach on the management of BC according to the stage at diagnosis. Moreover, they describe the burden of CGC and testing and future perspectives to widely offer testing. A new perspective is needed for models of service delivery of CGC and testing, beyond formal genetic counselling. A broader genetic test can be quickly usable in clinical practice for comprehensive BC management and personalized prevention in the era of precision oncology.
A screw implant, for fixing a false tooth to a jaw, has an implant body which is (partially) screwed into the jaw and has a threaded lower section and a non-threaded upper section. A middle section is provided between the upper and lower sections and has a thread of depth less than that of the thread of the lower section. Also claimed are (i) appts. for screwing a screw implant into a drilled hole in a jaw; and (ii) screw implants in which (a) the implant body has an internal threaded bore and a tool receiver in the form of a cross-slit (26), (b) the implant body (21) has, on at least part of its outer surface, an external thread or similar profile and a coating of bio-active or bio-compatible material, (c) the implant body has, on at least part of its outer surface, an external thread which is partly in the form of a self-tapping thread (32), (d) the implant body has, on at least part of its outer surface, an external thread or similar profile and has a jaw-side end (31) corresp. to a drill end for producing a drilled reception hole in the jaw, or (e) the implant body has, on at least part of its outer surface, an external thread or similar profile and has a jaw-side end face with a blind hole (40) extending concentrically to the longitudinal axis. ADVANTAGE - The implant is easily fitted in the jaw, heals in solidly and rapidly and is screwed into the jaw by an easily manipulated appts.
An 18-year-old man had episodes of severe generalised dystonia, from aged 7 months and becoming progressively more frequent. He also had gradually developed interictal limb dystonia. He was initially diagnosed with paroxysmal kinesigenic dyskinesia but he did not improve with several medications. A levodopa trial led to levodopa-induced dyskinetic movements. However, a lower titration of 25 mg of levodopa two times per day substantially improved his motor features and quality of life. Laboratory investigations and MR scans of the brain were unremarkable. Whole-exome sequencing identified a pathogenic variant in the ATP1A3 gene. The ATP1A3-spectrum disorders include non-classical phenotypes such as paroxysmal dystonic attacks. A response to dopamine response is unusual in these disorders. This case highlights the importance of levodopa trials in early-onset dystonia cases.
Cisplatin, widely used in chemotherapy, acts through mechanisms such as oxidative stress to damage the DNA and cause the apoptosis of cancer cells. Although effective, cisplatin treatment is associated with considerable side effects including chronic kidney disease (CKD). Studies on brown-strain Flammulina velutipes Singer (FVB) have shown its significant antioxidant and immunomodulatory effects. High-performance liquid chromatography (HPLC) confirmed that the FVB extract contained gallic acid and quercetin. This study investigated whether FVB extract can improve and protect against cisplatin-induced CKD in mice. C57BL/6 mice were used as an animal model, and CKD was induced through intraperitoneal cisplatin injection. FVB was orally administered to the mice for 14 consecutive days. N-acetylcysteine (NAC) was administered in the positive control group. Organ pathology and serum biochemical analyses were conducted after the mice were sacrificed. Significant dose-dependent differences were discovered in body mass, kidney mass, histopathology, renal function, inflammatory factors, and antioxidant functions among the different groups. FVB extract reduced the severity of cisplatin-induced CKD in pathways related to inflammation, autophagy, apoptosis, fibrosis, oxidative stress, and organic ion transport proteins; FVB extract, thus, displays protective physiological activity in kidney cells. Additionally, orally administered high doses of the FVB extract resulted in significantly superior renal function, inflammatory factors, antioxidative activity, and fibrotic pathways. This study establishes a strategy for future clinical adjunctive therapy using edible-mushroom-derived FVB extract to protect kidney function.
A method for inhibiting SMAD 1/5 signalling in endothelial cells, the method comprising, in an in vitro environment, contacting endothelial cells with a composition comprising an agent configured to inhibit the presence or activity of inhibin; and examining the endothelial cells following the contact. The agent may be configured to inhibit the presence of activity of the alpha subunit of inhibin, and may selected from an antibody, an interfering RNA, a small molecule inhibitor, wherein the agent may specifically bind the inhibin. The in vitro environment may also include a cell that express the alpha subunit of inhibin, particularly an ovarian cancer cell. The method may affect a MAPK pathway in the endothelial cells, such as the ERK 1/2 pathway. The method may further include contacting the endothelial cells with an agent configured to inhibit the presence or activity of activin receptor-like kinase 1 or endoglin. The endothelial cells may comprise human microvascular endothelial cells or mouse embryonic endothelial cells.
The invention discloses a composition for a health-care product, a health-care product and a using method thereof. The composition for the health-care product comprises tea leaf and papain, wherein the papain is selected from pawpaw powder or pawpaw block; the weight ratio of the pawpaw powder or pawpaw block to the tea leaf is 1:(1.5-3.5); the tea leaf contains eurotium cristatum. The health-care product comprises the composition for the health-care product and is prepared by mixing the tea leaf with the papain. The health-care product is applied to treating metabolic arthritis, hypertension, hyperlipidemia and hyperglycemia. The invention also provides a using method of the health-care product. The using method comprises the following steps of: mixing the composition of the health-care product according to any of Claim 2-5, the pawpaw powder or pawpaw block with tea leaf, adding water and drinking. The health-care product has obvious effect on treating metabolic arthritis, hypertension, hyperlipidemia and hyperglycemia.
The intervention was an 18"x18" poster board with a large blank surface for patients to share information about who they are as people and what is important to them. The Care to Share poster was co-designed with ten medicine inpatients during pilot testing. The goal of the poster was to equip Caregivers with humanizing information about their patients, thereby provoking more genuine empathetic interactions. Based on input from pilot testing, the researcher wrote on the poster for the patient to ensure ease of completion and legibility. The posters were displayed on the wall behind patients' beds, so Caregivers entering the room could easily see the information when facing the patient.
Levia Narrow Band UVB dosing for subjects with skin type I: starting dose of 195 mj/cm2, for subjects with skin type II: starting dose of 330 mj/cm2, for subjects with skin type III: starting dose of 390 mj/cm2, for subjects with skin type IV: starting dose of 495 mj/cm2, for subjects with skin type V: starting dose of 525 mj/cm2, for subjects with skin type VI: starting dose of 600 mj/cm2. The dose will be increased by 15% with each treatment, as long as there are no side effects with treatment such as burning or redness.
The invention discloses a water-replenishing bactericidal wet tissue which has the innovation point that a cotton jacquard spunlaced fabric is used as a base material and is soaked by mixed liquid so as to prepare the water-replenishing bactericidal wet tissue. The mixed liquid comprises the following components by weight percent: 5 percent of raw liquid of green cucumbers, 1 percent of triclosan, 1 percent of allantoin, 2 percent of propylene glycol and the balance of RO purified water. The weight percent of the cotton jacquard spunlaced fabric and the mixed liquid is as follows: 15 percent of cotton jacquard spunlaced fabric and 85 percent of mixed liquid. When in use, the mixed solution can be adsorbed because of good water absorptivity of the spunlaced fabric, and the spunlaced fabric can be directly drawn for use. The wet tissue has the effects of water replenishing and sterilization. In addition, because a formula is cool, clean and moist and is not oily, oily and mixed skin has good air permeability instantaneously after being smeared, the health and the activity are effectively kept, the water-replenishing bactericidal wet tissue is soft and is close to the skin, and no any side effect exists after long-time use.
Significant proportions of adults engage in sedentary behaviour for prolonged periods of time which is generally regarded as having deleterious effects on health. However, far less is known about its specific effects on bone health. Exercise has been proposed as a method of improving bone health, as impact forces generated as the foot contacts the ground during physical activity have the potential to aid bone maintenance and development.

The properties of bone are regulated through the amount mechanical loading, frequency of loading and duration of loading endured, which can create an osteogenic effect. These variables can be quantified via accelerometry which records the magnitude, rate and duration of accelerations experienced at the site on the body where the accelerometer is worn. Although there is a vast amount of literature where accelerometers have been used to monitor physical activity, there is a lack of studies that use accelerometers to determine the most effective exercise for bone, especially in relation to the lumbar spine. Exploring the bone health and loading characteristics of sedentary and low and highly active non-sedentary individuals will provide evidence upon which to base future interventions that are likely to be of benefit for bone health in sedentary populations.
This post-market study was designed to characterize the real-world use of MPP technology in patients indicated for CRT device implant. Therefore in order to adequately characterize MPP, data from subjects with MPP programmed continuously or for at least 3 months prior to the final follow-up are reported as the MPP programming group.
BACKGROUND: Postoperative urinary retention (POUR), a common condition after prolapse surgery with potential serious sequelae if left untreated, lacks a clearly established optimal timing for catheter removal. This study aimed to develop and validate a predictive model for postoperative urinary retention lasting > 2 and > 4 days after prolapse surgery.
METHODS: We conducted a retrospective review of 1,122 patients undergoing prolapse surgery. The dataset was divided into training and testing cohorts. POUR was defined as the need for continuous intermittent catheterization resulting from a failed spontaneous voiding trial, with passing defined as two consecutive voids ≥ 150 mL and a postvoid residual urine volume ≤ 150 mL. We performed logistic regression and the predicted model was validated using both training and testing cohorts.
RESULTS: Among patients, 31% and 12% experienced POUR lasting > 2 and > 4 days, respectively. Multivariable logistic model identified 6 predictors. For predicting POUR, internal validation using cross-validation approach showed good performance, with accuracy lasting > 2 (area under the curve [AUC] 0.73) and > 4 days (AUC 0.75). Split validation using pre-separated dataset also showed good performance, with accuracy lasting > 2 (AUC 0.73) and > 4 days (AUC 0.74). Calibration curves demonstrated that the model accurately predicted POUR lasting > 2 and > 4 days (from 0 to 80%).
CONCLUSIONS: The proposed prediction model can assist clinicians in personalizing postoperative bladder care for patients undergoing prolapse surgery by providing accurate individual risk estimates.
Staphylococcus aureus α-hemolysin (Hla) is a pore-forming toxin critical for the pathogenesis of skin and soft tissue infections, which causes the pathognomonic lesion of cutaneous necrosis (dermonecrosis) in mouse models. To determine the mechanism by which dermonecrosis develops during S. aureus skin infection, mice were given control serum, Hla-neutralizing antiserum, or an inhibitor of Hla receptor [A-disintegrin and metalloprotease 10 (ADAM10) inhibitor] followed by subcutaneous infection by S. aureus, and the lesions were evaluated using immunohistochemistry and immunofluorescence. Hla induced apoptosis in the vascular endothelium at 6 hours post-infection (hpi), followed by apoptosis in keratinocytes at 24 hpi. The loss of vascular endothelial (VE)-cadherin expression preceded the loss of epithelial-cadherin expression. Hla also induced hypoxia in the keratinocytes at 24 hpi following vascular injury. Treatment with Hla-neutralizing antibody or ADAM10 inhibitor attenuated early cleavage of VE-cadherin, cutaneous hypoxia, and dermonecrosis. These findings suggest that Hla-mediated vascular injury with cutaneous hypoxia underlies the pathogenesis of S. aureus-induced dermonecrosis.
Primary immune thrombocytopenia (ITP) is an acquired autoimmune hemorrhagic disease. ITP patients have an increased risk of bleeding and the clinical symptoms are petechia, ecchymosis, organ hemorrhage and even life-threatening bleeding. The mortality rate in ITP is increased approximately 60% compared with age- and sex matched comparisons, bleeding is one of the leading causes of death, thus treating and preventing bleeding is particularly important for those patients. In most cases, platelet count is negatively correlated with the severity of bleeding. Correcting low platelets is the main measure to prevent bleeding in patients with ITP. Recombinant human thrombopoietin (rhTPO), a full-length glycated TPO, is a recombinant form of c-Mpl ligand that competes with endogenous TPO for binding to TPO receptors (TPO-R, c-Mp0), many clinical trials have shown that rhTPO can efficiently and safely stimulate platelet production, increase peripheral blood platelet count. The State Food and Drug Administration approved the drug as the second-line treatment for patients with ITP in 2005. Eltrombopag is an oral, synthetic non-peptide small molecule human thrombopoietin receptor agonist approved by the US FDA in November 2008 for the treatment of patients with chronic ITP, which were inefficiently by use of glucocorticoids, immunoglobulin or splenectomy. However, pharmacokinetic study of eltrombopag showed that Asians have twice the drug exposure rate than non-Asians, so eltrombopag may have different effects in different populations. Therefore, this trial will compare the efficacy and safety of intravenous rhTPO or oral use of eltrombopag after 14 days of treatment in Chinese ITP patients.
Patients will be mechanically ventilated with driving pressure guided ventilation with VT 6-8 ml /kg of predicted body weight, and after recruitment we will return to the baseline PEEP 5 cmH2O that will be increased by 2 cmH2O until reaching the lowest possible driving pressure for every patient. Each PEEP level will be applied for 10 respiratory cycles and DP will be calculated at the last cycle.
A novel hand held individually customized interactive integrated circuit device for nutrition and exercise management. Featuring built in Random Access Memory (RAM) Storage of extensive food lists with associated caloric and fat contents. The device also incorporates RAM storage of exercises with associated activity caloric values or rates. The basic unit utilizes the individual's personal characteristics such as sex, age, weight, height, frame size, life style and goals with programmed calculations to derive optimum suggested weight, metabolic rate, daily caloric/fat intake targets, exercise targets and exercise/daily calorie burning rates. The personalized hand held calorie computer tracks daily and historical individual caloric input/output, fat input, and weight which can be viewed in the form of charts and graphs. Alarms are provided in a variety of tones, sounds, and tunes which alert the individual to breach of prescribed optimum daily caloric/fat intake or signal special events such as times for medication, special eating intervals, and appointments. Additionally, it can be used with optional wireless activity sensing and odometer attachments already available in the market to automatically track/deduct burned calories from total daily caloric intake when walking, running, riding a bicycle, or performing other activities. The device is intended for use by individuals interested in increasing, decreasing or maintaining their body weight for personal or medical reasons. Optional medical programs take into consideration special dieting, medication and exercise requirements of patients with diabetes, high cholesterol, heart ailments, hypoglycemia and other diseases. Confidentiality is assured by use of a Personal Identification Number (PIN) which is selected and changed at will by the individual user. The device will be available in various languages. Other functions include a four function calculator and a clock/calendar.
BACKGROUND: Osteonecrosis of the femoral head (ONFH) significantly impacts young and middle-aged adults, with steroid use implicated in many cases. Traditional treatments have limited efficacy, prompting a shift towards innovative approaches, such as stem cell therapy, offering less invasive regenerative solutions.
METHODS: Using bibliometric analysis from 1997 to 2023, we identified 392 articles on stem cell therapy for ONFH from the Web of Science Core Collection and analysed them using VOSviewer and CiteSpace to identify key trends and research directions.
RESULTS: From 1997 to 2023, stem cell therapy for ONFH research expanded significantly, with 392 articles evidencing global collaboration, particularly from China, the United States and South Korea. The field is characterised by 158 core authors across 26 clusters and contributions from 417 institutions in 104 research clusters, with Shanghai Jiao Tong University as a notable leader. This research is disseminated through 23 journal clusters, emphasising interdisciplinary work, with Clinical Orthopaedics and Related Research among the most influential journals. Key findings include the identification of the most influential papers, highlighting advances, such as use of autologous mesenchymal stem cells (MSCs) and innovative delivery mechanisms. High-frequency keyword analysis further mapped the evolution of the field, from basic mechanisms to advanced therapies, underscoring a trend towards more targeted stem cell treatments for ONFH.
CONCLUSION: Stem cell therapy for ONFH has advanced significantly, showcasing a successful transition from basic research to clinical practice, particularly highlighted by developments in use of autologous MSCs and delivery methods. Future research will focus on refining therapies through exosome technology, targeted modulation of stress and inflammation and integration with surgical techniques, with the aim of tailored patient care and improved ONFH outcomes.
Subjects assigned to the interpersonal clinical interaction (ICI) will undergo a one-week waiting period after the initial assessment. Visits will involve a session with a research nurse that will be approximately 20 minutes in length; visits at baseline, end of lead-in, and 1, 2, 4, and 8 weeks also will include a brief (5-10 minutes) meeting with a physician.
Four patients with plasma HIV RNA \<50 copies/ml and CD4+T cell count more than 350 cells/μl receiving at least one-year antiviral treatment are injected intravenously with 1×10\^5 CAR-T cells/kg body weight. If the dosage of 1×10\^5 CAR-T cells/kg body weight is well tolerated, 5×10\^5 CAR-T cells/kg body weight will be infused for another 4 subjects who meet the inclusion and exclusion criteria.
The aim of this study is to investigate the application performance of rapid copy number variation sequencing (rCNV-seq) technology for the detection of chromosomal abnormalities during prenatal diagnosis. Samples were collected from 424 pregnant women who were at high-risk for noninvasive prenatal screening in Kunming Maternal and Child Care Hospital from January 2018 to May 2022. rCNV-seq technique was used to detect fetal chromosome abnormalities and compare the results with that of chromosomal karyotype analysis. The Result showed that 330 (77.83%, 330/424) cases indicated chromosomal abnormalities among 424 high-risk pregnant women who underwent rCNV-seq. Moreover, 94 (22.17%, 94/424) cases were discovered to have copy number variations. Among the 330 fetuses with chromosomal abnormalities, common autosomal aneuploidy was observed in 203 cases (47.87%, 203/424) and sex chromosome aneuploidy was observed in 91 cases (21.46%, 91/424). Moreover, the abnormalities in multiple chromosomes were discovered in 33 cases (7.78%, 33/424), and the rare autosomal aneuploidy was observed in 3 cases (0.71%, 3/424). There were 63 fetuses (14.86%, 63/424) with pathogenic CNVs among the 94 fetuses with variable copy numbers. Of the 245 pregnant women who voluntarily selected G-band karyotyping, 1 fetus with copy number variation had normal karyotype results, and the remaining women were consistent with rCNV-seq. Our study revealed that rCNV-seq has higher accuracy in detecting common trisomy and can also detect chromosomal microdeletions or microduplications that cannot be detected by G-banding karyotype analysis. There is no effective treatment for chromosomal diseases, so it is particularly important to prevent chromosomal diseases through genetic counseling and prenatal diagnosis of chromosomal diseases.
Our studies include data from typically developing youth, and individuals with a range of psychiatric presentations from behaviorally-defined (e.g. Childhood-Onset Schizophrenia, Autism Spectrum Disorder) as well as genetically-defined (e.g. Sex Chromosome Aneuploidy) groups. Participants span a wide age range (from 3 years of age upwards).
FIELD: medicine, ophthalmology. SUBSTANCE: the innovation deals with new medicinal preparation as eye drops including lipoic acid in the form of solution of 0.1 and 1% concentration as active (antioxidant) substance. Data are obtained on accumulation of products of cytotoxic action of lipid peroxidation (LPO) in moisture of anterior ocular chamber. The concentration of these products increases as pathological process develops. The suggested eye drops provide neutralization of toxic impact of these products, in case of glaucoma, especially. EFFECT: higher efficiency of therapy. 2 dwg