86 results about "S syndrome" patented technology

The invention relates to the technical field of data analysis, and particularly discloses a Down's syndrome screening system based on multiple key indicators, which comprises the following steps: analyzing historical sample data including pregnant woman age, body weight, race background, pregnancy history record, serum PAPP-A concentration, free beta-hCG concentration, neck transparent layer thickness and the like; mining a chromosome abnormality risk distribution rule; standardizing detection data by adopting a principal component analysis method, grouping pregnant woman features by utilizing a clustering algorithm, and determining a feature offset coefficient; establishing a personalized index reference interval by combining factors such as fetal structure abnormality, chromosome abnormality and family genetic disease history; generating personalized risk probability distribution by fusing individual features and ultrasonic measurement data; according to the method, the risk value is calculated and the dynamically adjusted risk prediction curve is generated according to the real-time detection data and the personalized reference interval, so that an accurate Down's syndrome risk assessment basis is provided for clinical decisions.

The invention features ALK2 antibodies and antigen binding fragments thereof (e.g., ALK2 binding fragments). The invention also features pharmaceutical compositions and methods of using the ALK2 antibodies or antigen binding fragments thereof to treat bone disease or damage, low red blood cell levels (e.g., anemia or blood loss), heterotopic ossification (e.g., heterotopic ossification resulting from fibrodysplasia ossificans progressiva), Sjogren's syndrome (e.g., dry eye associated with Sjogren's syndrome), multiple osteochondroma, diffuse intrinsic pontine glioma, posterior capsule opacification, or cardiac hypertrophy and / or cardiac fibrosis.

The invention relates to the technical field of biological medicines, and provides application of NR1D1 in treating sicca syndrome, related medicines and the like. The scheme of the invention discovers and proves that the NR1D1 gene participates in the sicca syndrome pathogenesis process, can significantly influence the function of submaxillary gland cells, and is an effective sicca syndrome immune inflammation regulation diagnosis and treatment target.

Fusion polypeptides are provided and comprise at least two ligand binding domains and a fragment crystallizable (Fc) region of immunoglobulin G (IgG). The ligand binding domains include an amino acid sequence selected from the group consisting of SEQ ID NOS: 1-25 and / or one of the at least two ligand binding domains binds modulates B cell activity while the other modulates T cell activity. Isolated nucleic acids, vectors, and isolated cells encoding or including the fusion peptides are further provided. Pharmaceutical compositions include the fusion peptides and a pharmaceutically-acceptable vehicle, carrier, or excipient. Methods of treating Sjögren's Syndrome and / or Systemic Lupus Erythematosus are also provided and comprise administering to a subject in need thereof the fusion polypeptide including the two ligand binding domains and the Fc region of IgG.

This disclosure relates to, inter alia, certain compounds, compositions, and pharmaceutical compositions thereof, that modulate the activity of the transporter protein vesicular monoamine transporter- 2 (VMAT2) and are directed to methods useful in the treatment of transporter protein vesicular monoamine transporter-2 mediated disorders, such as, neurological or psychiatric disease or disorders, including but not limited to, hyperkinetic movement disorders (e.g., tardive dyskinesia, Tourette's syndrome, Huntington's disease, tics, ataxia, chorea (such as, chorea associated with Huntington's disease), dystonia, hemifacial spasm, myoclonus, restless leg syndrome, and tremors). The disclosure further relates to synthetic methods and intermediates useful in the preparation of compounds.

The invention discloses application of a marker in preparation of a sicca syndrome diagnosis product, and a construction method and equipment of a diagnosis model, and relates to the technical field of sicca syndrome diagnosis. The sicca syndrome marker comprises a ratio of citrulline to arginine. The ratio of citrulline to arginine in serum has a close relationship with sicca syndrome, a diagnostic model developed based on the marker has the technical advantages of high diagnostic specificity, high sensitivity and good accuracy, and the detection method is simple, convenient and reliable and is easy to clinically popularize.

The invention provides an auxiliary physical therapy device for xerostomia of sicca syndrome patients, which comprises a holding assembly and an atomization assembly arranged at the top end of the holding assembly, a liquid storage cabin is arranged above the atomization assembly, and a silica gel strip is arranged on the surface wall of the atomization assembly; wherein a protection assembly is arranged on the outer surface wall of the silica gel strip, the protection assembly is connected with the atomization assembly, the silica gel strip is located in the protection assembly, the silica gel strip is well protected when not used, the silica gel strip is prevented from being attached with bacteria, and the medical auxiliary equipment relates to the technical field of medical auxiliary equipment. A convenient and effective xerostomia physiotherapy scheme is provided for a patient, the life quality of the patient is remarkably improved, and the device has the advantages of being compact in structure, easy and convenient to operate, safe, reliable and the like.

A plurality of circular RNAs (circRNAs) the expression of which is correlated with brain disorders. The circRNAs are useful for compositions, kits, assays, and methods for the identification, diagnosis, screening, treatment and / or monitoring of brain disorders including psychiatric disorders such as bipolar disorder (BD), schizophrenia (SCZ), depression, Attention-Deficit / Hyperactivity Disorder (ADHD), Obsessive-compulsive disorder (OCD), Anxiety Disorders, etc., and neurodevelopmental disorders such as Autism, Asperger's Syndrome, and other Autism Spectrum Disorders (ASD), pervasive developmental disorders not otherwise specified (PDD-NOS), etc.

Methods of treating tinnitus, acute sensorineural hearing loss, Meniere's disease, Tourette's syndrome, ADHD or addiction with (1S,3S)-3-amino-4-(difluoromethylidene) cyclopentane-1-carboxylic acid or a pharmaceutically acceptable salt thereof are provided. Methods of treating tinnitus, acute sensorineural hearing loss, Meniere's disease, Tourette's syndrome, ADHD or addiction with (S)-3-amino-4-(difluoromethylenyl)cyclopent-1-ene-1-carboxylic acid are provided. Also provided are therapeutic compositions that may be used to improve one or more symptoms of tinnitus, acute sensorineural hearing loss, Meniere's disease, Tourette's syndrome, ADHD or addiction.

The invention discloses a compound for regulating the activity of micro RNA-124, the compound has a structure as shown in a formula (I), and the compound can be used for preventing or treating inflammatory diseases. Comprising but not limited to inflammatory bowel disease, rheumatoid arthritis, Crohn's disease, ulcerative colitis, multiple sclerosis, Alzheimer's disease, Paragins disease, osteoarthritis, atherosclerosis, ankylosing spondylitis, psoriasis, dermatitis, Sjogren syndrome, bronchitis, asthma and inflammation associated with colon cancer; the compounds are useful for treating colon cancer, and in particular inflammatory bowel disease, rheumatoid arthritis, Crohn's disease, ulcerative colitis, multiple sclerosis, osteoarthritis, ankylosing spondylitis, psoriasis, Sjogren syndrome, bronchitis, and inflammation associated with colon cancer.

[0366] Compounds of Formula (II), pharmaceutical compositions containing them, methods of making them, and methods of using them including methods for treating disease states, disorders, and conditions associated with the cGAS pathway, such as autoimmune disorders including Aicardi-Goutieres Syndrome (AGS), Systemic Lupus Erythematosus (SLE), Lupus Nephritis, Scleroderma, Sjogren's Syndrome, Inflammatory Myopathies, Hidradenitis Supperativa (HS), Parkinson's Disease, Rheumatoid Arthritis, Ulcerative Colitis and Crohn's Disease, formula (II) wherein Ra, (A), R1 and R2, are defined herein.

Disclosed herein are methods and devices for use in early detection of Richter's Syndrome. The methods include sequencing a panel of regions in cell-free DNA molecules and detecting one or more markers that are indicative of Richter's Syndrome.

Provided are compositions and methods comprising a CD40L-specific Tn3 scaffold. Also provided are methods of utilizing the same for the prevention and treatment of Sjögren's Syndrome.

The application discloses a protein zwitterionic polymer conjugate and a preparation method and application thereof. A multifunctional new medical biomaterial with mucosal adhesion, wetting, lubrication and microbial adhesion prevention is designed and synthesized, so that a new breakthrough is brought to the clinical demand of solving Sjogren's syndrome. In addition, the application has wide application prospects in the fields of oral lubrication, ophthalmic lubrication, joint repair and the like.

The invention discloses a tricyclic compound as well as a preparation method and application thereof. In particular, the present invention relates to a compound represented by general formula (I), a preparation method thereof, a pharmaceutical composition containing the compound, and uses of the compound in drugs for treating chronic kidney disease, renal or cardiac fibrosis, diabetic nephropathy, congestive heart failure, hypertension, primary aldosteronism and Cushing's syndrome, wherein each substituent in the general formula (I) is as defined in the specification.

Disclosed are compounds of formula (I) wherein G1 is as antagonists of the muscarinic acetylcholine receptor M4 (mAChR M4) for use in the treatment of e.g. a neurodegenerative disorder, a movement disorder, or a brain disorder, such as e.g. Parkinson's disease, drug-induced Parkinsonism, dystonia, Tourette's syndrome, dyskinesias, schizophrenia, cognitive deficits associated with schizophrenia, excessive daytime sleepiness, attention deficit hyperactivity disorder (ADHD), Huntington's disease, chorea, cerebral palsy, and progressive supranuclear palsy. An exemplary compound is e.g. (2,5-difluoro-4-(6-(((3aR,5s,6aS)-2-((tetrahydro-2H-pyran-4-yl)methyl)octahydrocyclopenta[c]pyrrol-5-yl)amino)pyridazin-3-yl)phenyl)(imino)(methyl)-λ6-sulfanone (e.g. example 12; compound no. 7) Pharmacological data on the activity of the compounds in an mAChR M4 cell-based assay are provided (e.g. table 2).TABLE 2Human M4Cpd. No.IC50 (nM)Emin (%)*113.44239.62318.5345846575.4361883746.0385607918.43101.821186.231243.42138.63*% ACh maximum at 30 μM.

The invention discloses an application of cGAS as a target in prevention / treatment of Leigh syndrome. The method comprises the following steps: constructing NDufs4; a cGAS DKO gene knockout mouse model is researched, and the result shows that by knocking out cGAS, the glial hyperplasia phenomenon weakening of the mouse with the Like's syndrome can be improved, and neuroinflammation is inhibited. The invention provides a new potential drug target and a treatment strategy for treating the Like's syndrome, and lays a foundation for researching and developing a new drug for treating the Like's syndrome.

The invention discloses a system for screening Reiye's syndrome based on NOD2 gene new pathogenic mutation. The invention provides a computer device. The computer device comprises a memory, a processor and a computer program stored in the memory, the processor executes the computer program to implement the following steps: receiving NOD2 gene data (cDNA sequence) of a person to be tested; the method comprises the following steps: reacting the NOD2 gene with any one of the following mutations in SEQ ID No.2 stored in a computer: c.380Cgt; t, c, 2657Cgt; t, c.328Ggt; a, c.1295Cgt is selected from the group consisting of the T, c, 1981Ggt; c, and c, 2452Agt; c) performing comparison; and according to a comparison result, outputting information about whether the to-be-detected person is or is suspected to be a patient with the Reiderson's syndrome or about the risk of suffering from the Reiderson's syndrome. The novel pathogenic gene mutation form related to the NOD2 gene of the patient with the Reidersi syndrome is found, the novel pathogenic gene mutation form can serve as a target object to be used for developing a reagent and a computer device for diagnosing or screening the Reidersi syndrome, and the novel pathogenic gene mutation form has important significance on diagnosis and screening of the Reidersi syndrome.

The invention relates to a primary sicca syndrome biomarker. The biomarker is telomere relative length. By detecting the relative length of telomeres in peripheral blood leucocytes and combining a statistical model, the early diagnosis sensitivity and specificity of the primary sicca syndrome are remarkably improved. Compared with a traditional diagnosis method, the disease risk can be predicted before clinical symptoms appear, and therefore early intervention of diseases is achieved.

Applicants disclose methods, uses, and compositions for treating patients suffering from Cushing Syndrome or Cushing Disease (collectively referred to as' CS ') without causing a significant QT interval extension (e.g., the difference of the QT interval after administration from the baseline QT interval by no more than about 10 milliseconds). The therapeutic amount of the heteroaryl ketone fused aza-naphthane compound may be from about 50 mg / day (mg / day) to up to about 500 mg / day, in embodiments, up to about 800 mg / day. The methods, uses, and compositions can shorten QT intervals, and can be used to treat QT prolongation in patients, including CS patients. The treatment may be a treatment administered orally to a fasting patient or an eating patient. The heteroaryl ketone fused aza-naphthane compounds can be administered with meals. The heteroaryl ketone fused aza-naphthane compound may be reracolan, which is (R)-(1-(4-fluorophenyl)-6-((1-methyl-1H-pyrazol-4-yl) sulfonyl)-4, 4a, 5, 6, 7, 8-hexahydro-1H-pyrazolo [3, 4-g] isoquinolin-4a-yl) (4-(trifluoromethyl) pyridin-2-yl) methanone having the following structure (I) # imgabs 0 #

This invention provides a novel method for treating Sjögren's syndrome in individuals requiring treatment. [Solution] A method is provided for treating or preventing Sjögren's syndrome in a person in need, comprising administering a therapeutically effective amount of an anti-BAFFR antibody or a functional fragment thereof to the person. Preferably, the anti-BAFFR antibody or functional fragment thereof is ianarumab.

The utility model relates to the related technical field of medical detection, in particular to an NCAM2 detection box for detecting Alzheimer's syndrome, which comprises a detection box body, a detection card and a stretching mechanism, the stretching mechanism is arranged in the detection box body, and a drying mechanism is arranged in the detection box body. According to the NCAM2 detection box for detecting the Alzheimer's syndrome, through the arrangement of the stretching mechanism, when detection needs to be conducted, a handle is pulled, the handle drives a detection card to move through a baffle, the detection card drives an extension spring to conduct stretching deformation when moving along with the baffle, and a sample is placed into the detection card through a sample inlet; when the sample is detected, the acting force applied to the handle is released, at the moment, the extension spring rebounds and deforms to drive the detection card to restore to the original position, meanwhile, the baffle restores to the original position, the sealing strip connected to one side of the surface of the baffle in a bonding mode is embedded into the sealing groove, and therefore the sample can be detected in the detection box body; the external environment is prevented from influencing the detection result.

The application belongs to the technical field of diagnostic markers, and particularly relates to a pathological diagnosis biomarker combination for adrenal Cushing syndrome and application. The pathological diagnosis biomarker combination comprises low density lipoprotein receptor (LDLR), 3-hydroxy-3-methylglutaryl coenzyme A synthetase 1 (HMGCS1) and cytochrome P450 11B1 (CYP11B1). The area under the ROC curve (AUC) of the pathological diagnosis biomarker combination can reach 0.881 (95% confidence interval (CI): 0.775-987; sensitivity: 85.7%; specificity: 85.0%), which indicates that the combination of LDLR, HMGCS1 and CYP11B1 as the pathological diagnosis biomarker combination for adrenal Cushing syndrome has high accuracy.

This invention discloses the application of LGK974 in the preparation of drugs for the prevention and / or treatment of dry eye syndrome, relating to the field of biomedical technology. The application of LGK974 in the preparation of drugs for the prevention and / or treatment of dry eye syndrome. This invention is the first to discover the application of the Wnt-β-catenin pathway inhibitor LGK974 in the treatment of dry eye syndrome. LGK974, by inhibiting the Wnt-β-catenin pathway, can effectively protect meibomian gland acini and ducts, restoring normal lipid metabolism and secretion. In a NOD (Normally Ophthalmic Disorder) Sjögren's syndrome model, oral administration of 200-400 μg / kg / day of LGK974 significantly improved dry eye symptoms, including reduced corneal defects and increased tear secretion, alleviating morphological and functional damage to the meibomian glands. LGK974 provides a new targeted strategy for the treatment of dry eye syndrome, especially Sjögren's syndrome-related dry eye syndrome and meibomian gland dysfunction-related dry eye syndrome, and may become a potent and effective drug for the clinical treatment of dry eye in the future.

The invention relates to the technical field of molecular biology, in particular to a methylation marker for Down's syndrome diagnosis. The invention particularly relates to application of a detection reagent for detecting the methylation level of a CpG site of a nucleic acid marker in preparation of a Down's syndrome diagnostic kit. The nucleic acid marker comprises a) an SIM2 gene segment as shown in SEQ ID NO: 1 or a polynucleotide segment complementary to the SIM2 gene segment, and / or b) a CRYBG1 gene segment as shown in SEQ ID NO: 2 or a polynucleotide segment complementary to the CRYBG1 gene segment.

Methods and compositions for the treatment of ACTH-dependent Cushing's syndrome are provided herein.

The application discloses a traditional Chinese medicine compound for treating Sjogren's syndrome and a preparation method and application thereof. The traditional Chinese medicine compound is prepared from Huangqi, Danshen, Maidong and Dendrobium officinale. The traditional Chinese medicine for treating Sjogren's syndrome has the functions of tonifying qi, generating fluid, nourishing yin, moistening dryness, promoting blood circulation and removing blood stasis. The traditional Chinese medicine for treating Sjogren's syndrome has unique advantages, can obviously improve the dry mouth, anti-fatigue, submandibular gland lymphocyte infiltration and T cell subpopulation proportion disorder of Sjogren's syndrome, and is an effective pure traditional Chinese medicine preparation.

The disclosure relates to certain uses and methods of use of 3.1.0 and 4.1.0 azabicycle compounds of Formula (I), wherein X, Y, R1, R2a, and R2b are defined herein, and pharmaceutical compositions containing them, in the treatment of autism spectrum disorder, including Asperger's syndrome.

The present disclosure relates to methods for treating Sjogren's syndrome disease using compounds of formula (I) or pharmaceutically acceptable salts thereof. Also disclosed herein are compounds of formula (I) or pharmaceutically acceptable salts thereof for treating Sjogren's syndrome patients, as well as medicaments, dosing regimens, pharmaceutical formulations, dosage forms and kits for use in the disclosed uses and methods.

The present application relates to compounds of formula (A), wherein R1 is selected from formula (II) and formula (III) and R2 is selected from formula (IV), formula (V) and formula (VI), as IRAK4 inhibitors for use in methods of treating, for example, asthma and chronic obstructive pulmonary disease (COPD), cancer, inflammatory diseases and autoinflammatory / autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, myositis, Sjogren's syndrome, systemic sclerosis, gout, endometriosis, atopic dermatitis and psoriasis. Preferred compounds of the present application are, for example: N-(imidazo[l,2-b]pyridazin-3-yl)-l-cyclohexyl-2H-indazole-5-carboxamide, N-(pyrazolo[l,5-a]pyrimidin-3-yl)-l-cyclohexyl-2H-indazole-5-carboxamide, N-(imidazo[l,2-b]pyridazin-3-yl)-l-azaspiro[4.5]dec-8-yl-2H-indazole-5-carboxamide and N-(pyrazolo[l,5-a]pyrimidin-3-yl)-l-azaspiro[4.5]dec-8-yl-2H-indazole-5-carboxamide derivatives. An exemplary compound of the present application is, for example: N-(imidazo[l,2-b]pyridazin-3-yl)-6-methoxy-2-((5r,8r)-l-methyl-2-oxo-l-azaspiro[4.5]dec-8-yl)-2H-indazole-5-carboxamide (Example 1): formula (VII).