6 results about "Myotonia" patented technology

The invention discloses a muscular stiffness symptom quantitative evaluation method based on machine learning and related equipment. The method comprises the following steps: collecting a preliminary data set of a patient, wherein the preliminary data set comprises physiological signal feature data and label data; dividing the data set into a training set and a test set to train the evaluation model, and performing accuracy verification and optimization on the trained evaluation model, the evaluation model comprises an XGBOOST model constructed on the basis of arm joint resistance data, a Light GBM model constructed on the basis of arm joint electromyographic signals and a random forest model constructed on the basis of arm joint tremor signals; and acquiring physiological signal feature data of a target patient, and performing quantitative evaluation on the myotonia symptom of the target patient through the optimized evaluation model. The problems that existing diagnosis and symptom evaluation of myotonia mainly depend on subjective judgment of clinicians, objective quantitative standards are lacked, and formulation of treatment schemes and evaluation of curative effects are affected can be solved.

The invention discloses a system and a method for evaluating a Parkinson's muscle ankylosis symptom based on a multi-modal sensor. The system comprises an execution mechanism, a multi-modal data acquisition module and a data processing evaluation terminal, the multi-modal data acquisition module is fixed on the execution mechanism, and the multi-modal data acquisition module is also connected with the data processing evaluation terminal; wherein the execution mechanism is used for being worn on an arm of a tester and fixing the multi-modal data acquisition module; the multi-modal data acquisition module is used for acquiring multi-modal sensing data of a tester in a preset state; and the data processing and evaluating terminal is used for analyzing and processing the multi-mode sensing data and evaluating the Parkinson's muscle stiffness symptom of the testee. Objective data are acquired through the multi-modal data acquisition module, evaluation is performed in a data driving mode, the influence of subjective judgment of a doctor on the evaluation result is avoided, and the evaluation result of the Parkinson's myotonia symptom is more objective and accurate.

Disclosed herein are products, methods, and uses for treating, ameliorating, delaying the progression of, and / or preventing a disease or disorder associated with expression of an aberrant lamin A (LMNA) gene or progerin gene. Such disease or disorder includes, but is not limited to, a laminopathy, progeroid syndrome, progeria, or aging disorder resulting from the aberrant expression of LMNA or progerin. In some instances, the progeria is Hutchinson-Gilford progeria syndrome (HGPS). In some instances, the disease or disorder associated with the expression of progerin is premature aging or natural aging including, but not limited to, atherosclerosis, alopecia, osteoporosis, cardiovascular disease, skin abnormalities, fat storage, stroke, myocardial infarction, stroke, heart failure, muscle wasting, muscle weakness, myotonia, skeletal muscle problems, abnormalities of the retina, hip weakness, abdominal muscle weakness, joint and spinal abnormalities, lower leg weakness, shoulder weakness, hearing loss, and / or tissue inflammation. More particularly, disclosed herein are RNA interference-based products, methods, and uses for inhibiting or downregulating the expression of progerin. Even more particularly, the disclosure provides guide RNA and a CRISPR endonuclease for inhibiting or downregulating the expression of progerin and methods of using said guide RNA and a CRISPR endonuclease to correct a mutation in the LMNA gene and inhibit or downregulate progerin expression in cells and / or in cells of a subject having a condition resulting from the expression of progerin including, but not limited to, HGPS or progeria, an HGPS-like condition affecting LMNA mutations that affect exon 11 splicing, or a condition resulting from the expression of progerin.

The present invention provides a PCR detection kit for the CTG region of the myotonia thoracis protein kinase gene, comprising a specific primer pair whose nucleotide sequences are shown as SEQ ID NO: 1 and SEQ ID NO: 2, respectively. The method has the characteristics of strong amplification specificity and low amplification preference. At the same time, it overcomes the technical difficulty of the existing method showing false negatives in the detection of some samples, and achieves the detection of more than 1,000 repeat variations. The present invention also provides an application of a PCR detection kit for the CTG region of the myotonia thoracis protein kinase gene. The PCR detection kit of the present invention can be used to amplify heterozygous allele samples carrying CTG repeat expansions, and can also be used to detect the number of CTG tribase repeats in the 3'-UTR of the myotonia thoracis protein kinase gene.

The application discloses a gene medicine for treating deafness-dystonia-optic neuropathy syndrome caused by TIMM8A gene defect and application. The medicine core is a modularly designed adeno-associated virus vector system which carries an expression cassette containing a tissue-specific promoter and a human TIMM8A treatment gene. The application realizes precise treatment through local minimally invasive injection according to different symptoms: AAV-Anc80L65-MYO15-TIMM8A is injected into the cochlea to treat sensorineural hearing loss; AAV2 / 4-Brn3b-TIMM8A is injected into the vitreous body of the eyeball to treat optic neuropathy; AAV9-hSyn-TIMM8A is injected into the central lateral ventricle to treat dystonia. Preclinical studies have confirmed that the strategy can efficiently express TIMM8A protein in the corresponding target cells, significantly repair hearing, visual and motor function defects, and correct mitochondrial dysfunction from the pathological mechanism.

Disclosed herein are products, methods, and uses for treating, ameliorating, delaying the progression of, and / or preventing a disease or disorder associated with expression of an aberrant lamin A (LMNA) gene or progerin gene. Such disease or disorder includes, but is not limited to, a laminopathy, progeroid syndrome, progeria, or aging disorder resulting from the aberrant expression of LMNA or progerin. In some instances, the progeria is Hutchinson-Gilford progeria syndrome (HGPS). In some instances, the disease or disorder associated with the expression of progerin is premature aging or natural aging including, but not limited to, atherosclerosis, alopecia, osteoporosis, cardiovascular disease, skin abnormalities, fat storage, stroke, myocardial infarction, stroke, heart failure, muscle wasting, muscle weakness, myotonia, skeletal muscle problems, abnormalities of the retina, hip weakness, abdominal muscle weakness, joint and spinal abnormalities, lower leg weakness, shoulder weakness, hearing loss, and / or tissue inflammation. More particularly, disclosed herein are RNA interference-based products, methods, and uses for inhibiting or downregulating the expression of progerin. Even more particularly, the disclosure provides guide RNA and a CRISPR endonuclease for inhibiting or downregulating the expression of progerin and methods of using said guide RNA and a CRISPR endonuclease to correct a mutation in the LMNA gene and inhibit or downregulate progerin expression in cells and / or in cells of a subject having a condition resulting from the expression of progerin including, but not limited to, HGPS or progeria, an HGPS-like condition affecting LMNA mutations that affect exon 11 splicing, or a condition resulting from the expression of progerin.