35 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 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.

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.

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.

This disclosure relates to an oral dosage form (such as a capsule) comprising (a) mildametinib having a d90 of 250 microns or less, a d50 of 50 microns or less, or both, and (b) one or more pharmaceutically acceptable pharmaceutical excipients. Such dosage forms are useful in the treatment of tumors and cancers (such as plexus neurofibroma (PN), plexus neurofibroma associated with neurofibromatosis type 1 (NF1-PN), high-grade glioma (HGG), low-grade ovarian cancer, Langerhans cell histiocytosis (LCH), brain cancer, and cancers that have metastasized to the patient's brain). This disclosure also relates to improved dosage regimens for mildametinib treatment.

The present invention relates to a composition for the prevention or treatment of neurofibromatosis type 2 syndrome. Unlike the conventional TβR1 kinase inhibitor TEW7197, the compound represented by chemical formula 1, a pharmaceutically acceptable salt thereof, a solvate thereof, a stereoisomer thereof, or a combination thereof, according to the present invention, suppresses TGF-β receptor 1 (TβR1)-mediated RKIP reduction without inhibiting normal TGF-β signaling and can therefore be used as a novel therapeutic agent for neurofibromatosis type 2 syndrome, which can overcome the problem of side effects caused by the inhibition of normal TGF-β signaling.

The disclosure relates to methods of using block copolymer nanoparticles for in vivo therapeutic delivery, and methods therefor. More particularly, the invention relates to methods of using polymer nanoparticles for delivering nucleic acids for treating NF1.

The present application relates to heterocyclic compounds, and preparation methods and medical uses thereof. Specifically, the present application relates to compounds represented by general formula (I), preparation methods thereof, and pharmaceutical compositions containing the compounds, and uses thereof as PRMT5 inhibitors. The compounds and the pharmaceutical compositions containing the compounds can be used for treating and / or preventing diseases related to PRMT5 activity, such as non-small cell lung cancer, mesothelial tissue tumor, neurofibrosarcoma, pancreatic cancer, and solid tumor, etc. Wherein the definitions of the groups in general formula (I) are the same as the definitions in the specification.

This application describes a technology relating to treating neurofibromatosis type 1 and particularly, but not exclusively, to compositions and methods for gene replacement therapy treatments of patients having NF1-related tumors, for example, new recombinant adeno-associated virus vectors comprising a neurofibromatosis type 1 GAP-related domain fused to a Ras hypervariable region and use thereof to treat neurofibromatosis type 1.

The present invention provides a method of treating a patient suffering from bladder pain syndrome, said method comprising administering a solution containing a clostridial neurotoxin into the bladder of the patient; increasing the volume of solution comprising the clostridial neurotoxin present within the bladder, thereby applying a mechanical force against the inner surface of the urothelial layer; and maintaining said volume of solution comprising the clostridial neurotoxin present within the bladder at a volume that does not give rise to patient micturition and for a duration of at least 30 minutes, thereby allowing the clostridial neurotoxin to diffuse across the urothelial layer and into the lamina propria, where the clostridial neurotoxin binds to primary sensory afferent nerve fibres, suppresses secretion of neurotransmitters therefrom, and alleviates bladder pain.

The present disclosure provides a method for treating cutaneous neurofibromas (cNFs) in patients with neurofibromatosis type 1 (NF1) using talimogene laherparepvec (T-VEC), an oncolytic herpes simplex virus 1 (oHSV1) vector, as an illustrative example. The method includes administering to a subject an effective amount of T-VEC, typically by intratumoral injection. T-VEC is genetically modified to enhance tumor selectivity and stimulate anti-tumor immune responses. The treatment involves an initial dose followed by subsequent doses at specified intervals. The method may include repeated administrations and combination with additional therapies for cNF or NF1. This approach offers a potential non-invasive alternative to current treatments for cNFs in NF1 patients.