105 results about "Amyotrophy" patented technology

A method of enhancing the regeneration of injured nerves has the step of administering an effective exposure of pressure pulses or acoustic shock waves in a pulse or wave pattern to the zone of injury of the nerve during the regeneration process. The inventive method may include enhancing the stimulation of neuronal cell growth or regeneration by administering an effective exposure of pressure pulses or acoustic shock waves in a pulse or wave pattern to stimulate neuronal cell growth or regeneration, wherein the administering of the treatment is applied to a patient who has a pathological condition where neuronal repair can be facilitated including peripheral nerve damage caused by injury or disease such as diabetes, brain damage associated with stroke, and for the treatment of neurological disorders related to neurodegeneration, including Parkinson's disease, Alzheimer's disease and amyotrophic lateral, sclerosis multiple sclerosis and disseminated sclerosis. The treatment is ideally suited for neural regeneration after a degenerative condition due to any neurological infections or any other pathological condition.

The invention relates to the use of an antisense compound for inducing exon inclusion as a treatment for Spinal Muscle Atrophy (SMA). More particularly it relates to inducing inclusion of exon 7 to restore levels of Survival Motor Neuron (SMN) protein encoded by the Survival Motor Neuron (SMN) gene.

This invention defines novel research and clinical laboratory methodology and compositions related thereto appropriate for use in (a) determining the presence of a neurodegenerative disease selected from the group limited solely to Charcot-Marie-Tooth disease, familial Alzheimer's disease, familial Parkinson's disease, Huntington's disease, spinal muscular atrophy, Friedreich'a ataxia, giant axon neuropathy, juvenile ceroid-lipofuscinosis, familial motor neuron diseases, juvenile diabetic polyneuropathy and Down's syndrome, (b) monitoring the ongoing status of the physiological expression of said disease and (c) screening candidate therapeutic drug agents for possible effectiveness. The invention is based on the new and novel observation that the presence of a neurodegenerative disease can be characterized in part by the expression in cultured fibroblasts obtained from the patient of one or more proteins which are not the product of a defective disease-inducing gene, but which are stress proteins, one or more other proteins modified by conditions of oxidative stress or one or more other disease-related proteins. The invention depends on living cell material, namely fibroblasts, which are readily and, if necessary, repeatedly available from a patient. When adapted as a method and composition useful for the screening candidate therapeutic drug agents for possible effectiveness, this technology offers advantages in terms of (a) providing research opportunities which, in some cases, never existed before, (b) cost effectiveness when compared to alternative technologies, (c) ability to be used readily on a large scale, (d) ability to generate meaningful data in a comparatively short period of time, and (e) providing an early stage opportunity to obtain information based on direct interaction of a candidate drug and a living tissue disease model. Various aspects of diagnostic methods and compositions are also disclosed.

The invention provides a method for determining residual organic solvents in the freeze-dried injection of a traditional Chinese medicine composition. The raw materials of the freeze-dried injection of the Chinese medicine include ginseng and epimedium, which are clinically used for motor neuron diseases (amyotrophic lateral sclerosis, amyotrophic lateral sclerosis, spinal muscular atrophy, progressive bulbar palsy, primary lateral sclerosis), progressive muscular dystrophy, congenital myopathy and other diseases caused by muscular atrophy and myasthenia gravis, the method of the present invention uses the top The residual amount of organic solvent can be determined by air chromatography, which can be used for the quality control of the product.

Disclosed herein are compositions and methods for treatment of spinal muscular atrophy (SMA). In certain embodiments, compounds are provided that increase full-length survival of motor neuron (SMN) protein production by an SMN2 gene.

The invention discloses a probe for detecting common genetic diseases, a gene chip, a preparation method and application. The preparation method comprises the following steps of according to genes ofthalassemia, phenylketonuria, spinal muscular atrophy, hepatolenticular degeneration, pseudomuscular hypertrophy, glycogen storage disease Type II, methylmalonic academia, methylmalonic aciduria-accompanied type cysteine peptiduria Type cb1C, and oculocutaneous albinism Type 1, constructing a target capturing area, and designing a capturing probe, wherein the target capturing area comprises all globin genes, important regulating areas, deleted mutation breakpoints and SNP (single nucleotide polymorphism) sites of alpha and beta genes, and SMN1, PAH, ATP7B, DMD, GAA, MUT, MMACHC and TYR genes.The probe for the gene mutation of common genetic diseases can be designed according to the related genes of nine types of genetic diseases, and the prepared probe can be used for detecting the nine types of genetic diseases, and be suitable for large-scale population diagnosis and screening.

The invention relates to a method for detecting a genetic disease gene and particularly discloses a method for detecting a spinal muscular atrophy virulence gene. The method comprises the following steps: 1, performing enrichment processing on SMN1 and SMN2; 2, preparing a nanopore sequencing library for sequencing; 3, sequencing by a sequenator; and 4, performing clinical report evaluation on the obtained sequence file. The method is convenient to use, low in cost and can effectively and accurately detect the copy number of the spinal muscular atrophy virulence gene, the small segment insertion and deletion, the point mutation, the noncoding region mutation and even the gene translocation, and brings help and breakthrough for the clinical diagnosis and scientific research on the spinal muscular atrophy.

The invention relates to a traditional Chinese medicine for treating myasthenia gravis and amyotrophy. The problem of using medicine for treating myasthenia gravis and amyotrophy is efficiently solved. According to the technical scheme, a method comprises the following steps: respectively crushing the following materials into powder: 13-17g Chinese angelica, 13-17g rhizoma homalomenae, 13-17g pawpaw, 13-17g spatholobus stems, 13-17g sargentgloryvine stems, 9-12g cortex eucommiae and 9-12g cassia twigs; screening by using a 300 mesh sieve, uniformly mixing the powder into fine medicine powder, and standing by; mixing 13-17g rehmannia glutinosa, 13-17g fructus corni, 13-17g medlar, 13-17g fructus psoraleae, 13-17 mistletoe and 13-17g achyranthes bidentata, adding water and decocting, and concentrating decocted liquid into extractum; mixing the fine medicine powder with the extractum and preparing into a medicine lump; pelletizing and drying; and coating and packaging. The traditional Chinese medicine is used for efficiently treating the myasthenia gravis and amyotrophy and has the functions of strengthening the muscle, forming the muscle, strengthening tendon and bones, nourishing liver and kidney, promoting blood circulation and removing blood stasis, promoting the immunity of organism, nourishing and repairing nerve and muscle cells, increasing the endurance of the cells and enhancing the muscle vigor. The traditional Chinese medicine is excellent in curative effect, is free from toxic side effects, is conveniently and simply taken and is safe and reliable.

The invention discloses primers for detecting homozygous deletion mutation of spinal muscular atrophy related virulence genes SMN1 and SMN2. The primers comprise primers c.835-44, c.840, INS7+100, INS7+215 and *239 sites which amplify SMN1 and SMN2. By adopting a Sanger sequencing technology, the method can be used for detecting mutation conditions of c.835-44, c.840, INS7+100, INS7+215 and *239 sites in a body of the spinal muscular atrophy patient. The detection result finished by the invention is accurate and has important reference meaning in early screening of spinal muscular atrophy.

The invention provides a method for interfering muscle specific E3 ubiquitin protein ligase gene expression, in particular to interference RNAs of an Artogin-1 gene and a MuRF1 gene and DNA sequences thereof, a carrier containing the same and the interference RNAs transcribed by the carrier, and application of the interference RNA sequences, the carrier containing the same and the interference RNAs transcribed by the carrier to preparing a medicine for preventing and treating amyotrophy diseases. In cellular levels and experimental animals, the interference RNA sequences of the invention respectively lower Atrogin-1 gene expression and MuRF1 gene expression by about 60% and 30% compared with contrast, and muscular cell differentiation levels are respectively improved by about 70% and 30% compared with contrast. The interference RNAs show obvious treating effect on amyotrophy of experimental animals, thus effectively improving muscle quality in the event of an outbreak.

The invention provides a probe composition and a kit for screening genetic disease pathogenic gene carriers and a preparation method of the probe composition and the kit. The probe composition specifically captures pathogenic genes of genetic diseases, and the genetic diseases comprise alpha-thalassemia, beta-thalassemia, spinal muscular atrophy, hepatolenticular degeneration and methylmalonic acid cblC type. The invention provides a probe combination which is accurate, reliable, simple and economical, can be used for screening carriers of various genetic disease pathogenic genes at the same time, and is convenient for popularization and clinical application of screening of carriers of common genetic diseases.

The invention relates to application of rhodiola rosea in prevention and treatment of an amyotrophy disease. An experiment shows that the rhodiola rosea can inhibit the expression of amyotrophy specific factor Atrogin-1 in the amyotrophy generating process and the reduction of the cross sectional area of skeletal muscle fiber, and can regulate the content of protein related to the muscle fiber in amyotrophy so that slow-twitch fibers protein can be increased, and fast-twitch fibers protein can be reduced, as a result, the generation of amyotrophy is resisted. According to the application, the rhodiola rosea serving as the active ingredient can be used for preparing the medicament for preventing and controlling a skeletal muscle atrophy disease.

The invention provides a method for determining contents of multiple components in a lyophilized injection of a traditional Chinese medicine composition. The raw materials of the traditional Chinese medicine lyophilized injection include ginseng and short-horned epimedium herb. The lyophilized injection is clinically used for treating muscular atrophy and myasthenia gravis caused by motor neuron diseases (amyotrophy lateral sclerosis, progressive spinal myodystrophia, progressive bulbar paralysis and primary lateral sclerosis), progressive muscular dystrophy, congenital myopathy and other diseases. The method provided by the invention adopts a high performance liquid chromatography to conduct fingerprint measurement which is used for qualitative quality control of products.

The invention discloses a fluorescence quantitative PCR kit for human spinal muscular atrophy-related gene deletion detection, wherein the kit is provided with a Taqman probe fluorescence quantitativePCR method. A seventh exon and an eighth exon of the SMN1 gene, and a specific primer and the probe of the internal reference gene RPP40 are designed respectively in the kit. The kit can detect the seventh and eighth exons of the SMN1 gene intuitively, accurately and quickly, thereby the distinction between the SMA normal persons and the patients can be identified, and the device is suitable forpopularization and application as auxiliary diagnosis of human spinal muscular atrophy.

The invention provides a leg amyotrophy prevention exercise device. The amyotrophy prevention exercise device comprises two supporting plates which are hinged to each other, wherein a panel or two guide rails is/are paved on the bottom of the supporting plate I and correspond(s) to the bottom of the supporting plate II; guide wheels are arranged on the bottom of the supporting plate II; a support is arranged on the lower parts of the two supporting plates; a gear is arranged on the support; a rack is correspondingly arranged on the gear; one end of the rack is fixed to the back of the supporting plate II; the outside of the gear is connected with a driving motor by a belt or a chain; the driving motor is connected to a power source by a controller; travel switches are arranged on the panel or the guide rails before and after the guide wheels; an excessive protection plate is arranged on the hinged top end of the two supporting plates. When the leg amyotrophy prevention exercise device is used, the driving motor drives the gear to drive the rack to enable the supporting plate II to forwards and backwards move, the kniesehne of a patient is placed on the device, the shank is enabled to regularly move along with the forward and backward motion of the supporting plate II, the muscle of the leg is exercised, the blood circulation is facilitated, and the leg amyotrophy is prevented.