50 results about "Neurofibra" patented technology

The invention relates to the technical field of neurosurgery navigation, in particular to a neurosurgery brain puncture path accurate planning method and system.The neurosurgery brain puncture path accurate planning method comprises the following steps that by obtaining a preoperative brain function area image and nerve fiber bundle data, a function area range and sensitivity are extracted, a focus and cranial entry point path set is constructed, and a path set is established; the method comprises the steps of analyzing the distance between a path and a functional area and a fiber bundle included angle, calculating a functional interaction risk, dividing path sections and calculating the distances to a blood vessel, a ventricle and the functional area, generating obstacle field intensity and calculating a gradient difference, constructing a risk map, scoring candidate paths, and screening an optimal path to generate a puncture result. The method comprises the following steps: extracting a brain function region range and a fiber bundle direction, introducing a function sensitivity parameter, improving tiny damage identification, calculating obstacle field intensity in a path segmentation manner, forming a gradient, dynamically identifying a high-risk region, grading and screening candidate paths by integrating risk factors, performing function protection and risk reduction, and improving path planning refinement and safety.

The present application relates to the technical field of medical information processing and intelligent disease prediction, in particular to a neurofibromatosis prediction method based on clinical medical information. The method comprises the following steps: acquiring multi-modal clinical medical information with time labels; performing anatomical system classification processing, extracting clinical feature nodes and calculating correlation, and establishing an initial multi-system prediction network graph; determining the asynchronous graph node feature aggregation rate according to the feature update rate difference of adjacent nodes under different time labels, performing local feature diffusion processing, and determining a global multi-system prediction network graph; further determining the cross-domain evolution incubation period weight, the phenotype cascade transfer probability matrix and the disease topology state information entropy, and determining the neurofibromatosis prediction result accordingly. The present application solves the contradiction of long-term and ineffective consumption of a large amount of computing resources to cope with low-frequency but high-impact clinical events, and optimizes the trade-off relationship between risk identification accuracy and system response timeliness.

Aspects of the disclosure relate to compositions and methods of treating certain genetic disease (e.g., Neurofibromatosis type I) by delivering functional neurofibromin 1(NF1) protein (e.g., mini-NF1 protein and / or full-length NF1 protein) to target cell (e.g., cells and / or tissue of a subject). The disclosure is based, in part, on isolated nucleic acids (e.g., rAAV vectors) and rAAVs engineered to express a functional NF1 protein (e.g., mini-NF1 protein and / or full-length NF1 protein) or variants thereof.

The present invention relates to the technical field of biomedicine. Provided are a lentiviral vector for the gene therapy of neurofibromatosis type 2 (NF2), and the use thereof. The technical problem to be solved is how to provide a lentiviral vector suitable for treating neurofibromatosis type 2. Specifically, disclosed is a lentiviral vector for the gene therapy of neurofibromatosis type 2. The vector framework of the lentiviral vector is pPD5, and the sequence of the pPD5 is subjected to at least one of the following substitutions: A1) a substitution of the NF2 encoding sequence of the pPD5 with sequence 1; A2) a substitution of the promoter of the pPD5 with sequence 2; and A3) a substitution of the control element of the pPD5 with sequence 3. The improved vector can effectively inhibit tumor growth and can be used for the treatment of neurofibromatosis type 2, and thus lays the foundation for research on the lentiviral vector for the treatment of neurofibromatosis type 2.

The application belongs to the field of medicine, and particularly relates to application of axitinib in preparation of a medicine for treating plexiform neurofibroma. In the medicine, axitinib serves as the only effective component or one of the effective components. When axitinib serves as one of the effective components in the medicine, the effective components further include a MEK inhibitor. The MEK inhibitor is selected from one of selumetinib and trametinib. The application proves that axitinib can play a role in inhibiting plexiform neurofibroma (pNF) by targeting OTUD3, an important gene for promoting pNF progression. Moreover, axitinib is a drug that has been used for clinical treatment, and has good safety. The research result of the application shows that the combination use of axitinib and the MEK inhibitor can improve the inhibitory effect on neurofibroma.

The present disclosure relates to an oral dosage form, such as a capsule, comprising (a) mirdametinib having a d90 no more than 250 microns, a d50 no more than 50 microns, or both, and (b) one or more pharmaceutically acceptable excipients. These dosage forms are useful in the treatment of tumors and cancers, such as plexiform neurofibromas (PN), plexiform neurofibromas associated with neurofibromatosis type 1 (NF1-PN), high grade glioma (HGG), low grade ovarian cancer, Langerhans cell histiocytosis (LCH), brain cancer, and a cancer that has metastasized to a patient's brain. The disclosure also related to improved dosage regimens for mirdametinib treatments.

The invention relates to a multiplex fluorescent quantitative PCR (polymerase chain reaction) primer, a probe and a kit for detecting neurofibroma I type NF1 gene variation sites, and provides four NF1 gene mutation sites found for the first time, the four variation sites are NF1 gene c.21002105delinsAG, c.4561dup, c.6421del and c.6797dup variation sites respectively, and the mutation sites of the NF1 gene c.21002105delinsAG, the c.4561dup, the c.6421del and the c.6797dup can be used for detecting neurofibroma I type NF1 gene mutation sites. Meanwhile, the invention also provides a specific primer, a probe composition and a kit for detecting the NF1 gene variation site of the neurofibromatosis I type for screening or diagnosing the neurofibromatosis I type. The NF1 gene pathogenic variation spectrum is expanded, and a basis is provided for diagnosis and genetic counseling of the neurofibroma type I. The kit disclosed by the invention can comprehensively cover four new pathogenic variation sites of the NF1 gene related to the neurofibroma type I, is high in accuracy, and can specifically detect the pathogenic variation sites.

The application discloses application of FTY720 as a PP2A phosphatase activator in preparation of a medicine for treating type I neurofibromatosis. The application first uses FTY720 for treatment of type I neurofibromatosis, and proves that FTY720 significantly inhibits formation of neurofibromas by non-specifically activating PP2A phosphatase. In-vivo experimental results show that FTY720 as a single drug can significantly inhibit tumor growth, and a synergistic effect is presented when FTY720 is combined with a MEK inhibitor, and tumor growth is almost completely inhibited. In-vitro cell experiments show that FTY720 as a single drug or in combination with MEKi treatment can inhibit tumor Schwann cells from forming tumor spheres, inhibit cell proliferation and migration, and induce tumor cell apoptosis. The application overcomes the drug resistance problem existing in the prior art MEK inhibitor, and provides a new treatment strategy for type I neurofibromatosis. FTY720 is an FDA-approved drug, and has good safety and drugability, and has high clinical conversion potential.

The present disclosure is directed to a bio-feedback sensor in combination with AI and ML that can be implemented to optimize neuromodulation parameters for the management of a medical condition such a type II diabetes. The bio-feedback obtained by the sensors is optimized by the ML tools to predict and recommend the upregulation or downregulating the neuroregulators to modulate treatment. The algorithms could also learn to sense a life-threating pathological state, or bio-chemical imbalance, and in the case of diabetes a life-threating low blood sugar level the system overrides to stimulate the target fibers that control organs to regulate blood glucose levels.

The invention discloses a primer and probe composition for detecting neurofibroma type I NF1 gene variation sites, belongs to the technical field of gene diagnosis, and provides a group of specific primers and probe compositions aiming at 12 specific high-frequency or pathogenicity-clear variation sites of an NF1 gene. The composition comprises a specific primer pair aiming at 12 specific high-frequency or specific pathogenicity variation sites of the neurofibroma I-type NF1 gene and a double-labeled oligonucleotide probe matched with the specific primer pair, and the probe is suitable for melting curve analysis; the sequences of the primer pair and the probe of the 12 variation sites are SEQ ID NO. 1 to SEQ ID NO. 36. The primer and probe composition is high in specificity and sensitivity, the kit is easy and convenient to operate and low in cost, the detection result is consistent with that of a gold standard Sanger sequencing method, and the primer and probe composition is suitable for rapid screening and auxiliary diagnosis of clinical samples and has wide clinical application prospects and market value.

In an illustrative embodiment, methods and systems for treating fertility conditions in women diagnosed with polycystic ovary syndrome (PCOS), endometriosis, and / or adenomyosis using electrical neurostimulation include delivering neurostimulation therapy via electrical or mechanical stimulation elements, the neurostimulation therapy including applying first neurostimulation pulses using electrical neurostimulation or mechanical neurostimulation at one or more first regions of skin of the subject to directly and / or indirectly activate a nucleus tractus solitary (NTS) and / or a trigeminal cervical complex (TCC) to activate anti-inflammatory pathways, and applying second neurostimulation pulses using electrical neurostimulation or mechanical neurostimulation at one or more second regions of skin of the subject to directly and / or indirectly activate vagal neural fibers and / or trigeminal neural fibers, wherein the neurostimulation pulses are configured to increase a parasympathetic / sympathetic (P / S) ratio.

Relates to application of a pyridone carboxamide compound to treatment of type I neurofibroma related diseases. Specifically, the invention relates to application of 6-(2-chloro-4-iodophenylamino)-N-(2-hydroxyethoxy)-5-methyl-4-oxo-4, 5-dihydrofuro [3, 2-c] pyridine-7-formamide or a pharmaceutically acceptable salt thereof in treatment of type I neurofibroma related diseases.

The present invention relates to a heterocyclic compound, a preparation method therefor and a pharmaceutical use thereof. Specifically, the present invention relates to a compound as shown in general formula (I), a preparation method therefor, a pharmaceutical composition comprising the compound, and a use thereof as a PRMT5 inhibitor. The compound and the pharmaceutical composition comprising the compound can be used for treating and / or preventing PRMT5 activity-related diseases, such as non-small cell lung cancer, tumor of mesothelial tissue, neurofibrosarcoma, pancreatic cancer, and solid tumors. The definition of each group in general formula (I) is the same as that in the description.

Various embodiments relate to a method of providing restoration of vestibular function of a user. The method includes providing a plurality of treatment sessions, each session including affixing a first electrode on or near the user's mastoid and applying a subthreshold wideband stochastic electrical vestibular stimulation (swsEVS) waveform through the electrode. Persistent restoration of vestibular function is achieved and manifests as one or more of: regeneration of vestibular hair cells; increased synaptic gain between hair cells and vestibular nerve fibers; enhanced conductivity or excitability of afferent vestibular nerve fibers; removal of otoconia from semicircular canals; improved central neural integration and processing of vestibular, visual, and proprioceptive signals; augmented central generation of motor control signals; and elevated efferent feedback from the central nervous system to the vestibular inner ear.

The invention discloses an injectable intelligent interface hydrogel microsphere with sequential controlled release as well as a preparation method and application of the injectable intelligent interface hydrogel microsphere. The microspheres are prepared from methacrylated gelatin, carboxymethyl cellulose nanocellulose and brain-derived neurotrophic factors, and the microspheres are treated by chitosan, so that the microspheres are shrunk and loaded with more brain-derived neurotrophic factors at the same time. On the basis, through polydopamine modification, the obtained microspheres have a sequential controlled release effect, and are beneficial to improving local inflammation after tissue defect and promoting regeneration and repair of defect tissues. In addition, the microspheres also have injectable characteristics, so that the microspheres can be conveniently applied to defect parts needing to be repaired. Acute-stage inflammatory response and subacute-stage and chronic-stage nerve fiber cell response can be regulated and controlled by utilizing the action of the sequential release biological factors of the microspheres and the multi-layer space structure, and spinal cord regeneration is promoted.

Various embodiments relate to a method of providing restoration of vestibular function of a user. The method includes providing a plurality of treatment sessions, each session including affixing a first electrode on or near the user's mastoid and applying a subthreshold wideband stochastic electrical vestibular stimulation (swsEVS) waveform through the electrode. Persistent restoration of vestibular function is achieved and manifests as one or more of: regeneration of vestibular hair cells; increased synaptic gain between hair cells and vestibular nerve fibers; enhanced conductivity or excitability of afferent vestibular nerve fibers; removal of otoconia from semicircular canals; improved central neural integration and processing of vestibular, visual, and proprioceptive signals; augmented central generation of motor control signals; and elevated efferent feedback from the central nervous system to the vestibular inner ear.

The present invention relates to an inhibitor of an enzyme being involved in promoting cellular reductive capacity, preferably glucose-6-phosphate-dehydrogenase (G6PD) or acyl-CoA synthetase long chain family member 3 (ACSL3) for use in treating neurofibromatosis type 2 or preventing tumors caused by neurofibromatosis type 2.

The present invention relates to a tricyclic heterocyclic compound, a preparation method therefor and a pharmaceutical use thereof. In particular, the present invention relates to a compound represented by general formula (I), a preparation method therefor, a pharmaceutical composition containing the compound, and a use thereof as a PRMT5 inhibitor. The compound and the pharmaceutical composition containing the compound can be used for treating and / or preventing diseases related to PRMT5 activity, such as non-small cell lung cancer, mesothelioma, neurofibrosarcoma, pancreatic cancer, and solid tumor. The definition of each group in the general formula (I) is the same as that in the description.

The present invention relates to a method for preparing 4-(4-(2-(diethylamino)ethoxy)phenyl)-1-(4-methoxybenzyl)-1H-1,2,3-triazole-5-amine, which is a novel candidate material for NF2 treatment. Through an optimal preparation method, it is possible to prepare a compound with low impurities and high purity even at low manufacturing costs and within a short manufacturing time, and the compound prepared thereby can be used as a novel therapeutic agent for type 2 neurofibromatosis (NF2).

Compositions and methods for treating congenital epidermal or dermal hyperplasia by using topically administered oncokinase inhibitors such as trametinib, pyrrole derivatives, TAK-733, CH4987655, RDEA119 / BAY 869766, cobimetinib, binimetinib, selumetinib, and the like are described herein.

The present disclosure relates to fluorinated phenylamino compounds, their pharmaceutical compositions, and methods for treating one or more tumors or cancers selected from the group consisting of plexiform neurofibromas (PN), plexiform neurofibromas associated with neurofibromatosis type 1 (NF1-PN), cutaneous neurofibromas (cNF), pancreatic ductal adenocarcinoma (PDAC), high grade glioma (HGG), low grade ovarian cancer, tuberous sclerosis (TSC), Langerhans cell histiocytosis (LCH), brain cancer, and a cancer that has metastasized to a patient's brain, comprising administering to a patient in need thereof, those pharmaceutical compositions.

The present disclosure relates to an oral dosage form, such as a capsule, comprising (a) mirdametinib having a d90 no more than 250 microns, a d50 no more than 50 microns, or both, and (b) one or more pharmaceutically acceptable excipients. These dosage forms are useful in the treatment of tumors and cancers, such as plexiform neurofibromas (PN), plexiform neurofibromas associated with neurofibromatosis type 1 (NF1-PN), high grade glioma (HGG), low grade ovarian cancer, Langerhans cell histiocytosis (LCH), brain cancer, and a cancer that has metastasized to a patient's brain. The disclosure also related to improved dosage regimens for mirdametinib treatments.