33 results about "Myotonia" patented technology

The present invention provides novel 2-pyridinyl[7(pyridin-4-yl)pyrazolo[1,5-a]pyrimidin-3-yl]methanones with at least one substituent on both the 2- and 4-pyridinyl ring having the chemical structure of formula I: The invention further provides compositions and methods employing the novel 2-pyridinyl[7-(pyridin-4-yl)pyrazolo[1,5-a]pyrimidin-3-yl]methanones of formula I to modulate GABA and GABAA receptor physiology to elicit therapeutic responses in mammalian subjects to alleviate neurological or psychiatric disorders, including stroke, head trauma, epilepsy, pain, migraine, mood disorders, anxiety, post traumatic stress disorder, obsessive compulsive disorders, mania, bipolar disorders, schizophrenia, seizures, convulsions, tinnitus, neurodegenerative disorders including Alzheimer's disease, amyotrophic lateral sclerosis and Parkinson's disease, Huntington's chorea, depression, bipolar disorders, mania, trigeminal and other neuralgia, neuropathic pain, hypertension, cerebral ischemia, cardiac arrhythmia, myotonia, substance abuse, myoclonus, essential tremor, dyskinesia and other movement disorders, neonatal cerebral hemorrhage, and spasticity, as well as other psychiatric and neurological disorders mediated by GABA and / or GABAA receptors.

The invention discloses application of CCFM16 in preparation of bacterial agents, foods or medicines for relieving infantile autism and adsorbing polychlorinated biphenyl. Bifidobacterium bifidum CCFM16 can promote the autonomic behavior and exploratory behavior in an unfamiliar environment caused by infantile autism, relieving impaired social interaction caused by the infantile autism, remarkablyimproving the stereotyped behavior caused by the infantile autism, promoting the cognitive competence of the infantile autism on a new object, improving impaired limb coordination caused by nerve injury, improving normal elongation percentage of a body, relieving myotonia and impaired posture and gait caused by Parkinson's disease and effectively adsorbing polychlorinated biphenyl.

The present invention relates to a compound having a blocking effect against sodium ion channels, particularly Nav1.7, a preparation method thereof and the use thereof. A compound represented by formula 1 according to the invention, or a pharmaceutically acceptable salt, hydrate, solvate or isomer thereof may be effectively used for the prevention or treatment of pain, for example, acute pain, chronic pain, neuropathic pain, post-surgery pain, migraine, arthralgia, neuropathy, nerve injury, diabetic neuropathy, neuropathic disease, epilepsy, arrhythmia, myotonia, ataxia, multiple sclerosis, irritable bowel syndrome, urinary incontinence, visceral pain, depression, erythromelalgia, or paroxysmal extreme pain disorder (PEPD).

The present invention provides methods and compositions for the treatment of diseases associated with aberrant microsatellite expansions. Methods of the present invention comprise the use of recombinant adeno-associated virus vectors containing a transgene encoding at least one muscleblind protein. The present invention also provides an animal model for a disease associated with aberrant microsatellite expansion.

Methods and compositions for treating myotonia and dystrophies.

The invention relates to a separated nucleic acid of encoded skeletal muscle chloride ion channel mutants, an isolated polypeptide, a method for screening a myotonia congenital disease susceptible biological sample, a system for screening a myotonia congenital disease susceptible biological sample and a kit for screening a myotonia congenital disease susceptible biological sample. Specifically, the separated nucleic acid of encoded skeletal muscle chloride ion channel mutants, compared with the SEQ ID NO:1, has at least one mutation selected from the following: c.2655_2656insC, c.1616C>T, c.2057_2058delAC and c.313C>T. By detecting the existence of the new mutants in the biological sample, whether the biological sample is susceptible to a myotonia congenital disease can be effectively detected.

The invention discloses the application of CCFM16 in the preparation of bacterial agents, food or medicine for relieving autism and absorbing polychlorinated biphenyls. Bifidobacterium bifidum CCFM16 can improve autonomous behavior and exploration in unfamiliar environments caused by autism Behavior, relieve social barriers caused by autism, significantly improve stereotyped behaviors caused by autism, improve autism's ability to recognize new objects, improve the decline in limb coordination caused by nerve damage, and increase the normal body extension rate , Relieve muscle rigidity and posture and gait disorders caused by Parkinson's disease, and effectively adsorb PCBs.

The invention discloses a writing structure for patients with parkinsonian syndromes. The writing structure comprises an execution part and an end head part, wherein the execution part comprises an outer frame, an X-directional motion cross brace and a Y-directional motion cross brace, wherein the outer frame is in a square circular shape; a square circular shaped sliding slot is formed in the side wall of a square circular inner ring; the square circular shaped sliding slot comprises a pair of parallel X-directional sliding slots and a pair of parallel Y-directional sliding slots; the X-directional sliding slots are orthogonal to the Y-directional sliding slots; the two ends of the X-directional motion cross brace are separately arranged in the pair of X-directional sliding slots and aremoved along the X-directional sliding slots; and the two ends of the Y-directional motion cross brace are separately arranged in the pair of Y-directional sliding slots and are moved along the Y-directional sliding slots. According to the writing structure for the patients with the parkinsonian syndromes, through arrangement of the structure, static tremor caused by the parkinsonian disease can bedealt simultaneously with myotonia caused by the parkinsonian disease, so that writing can be completely and continuously finished in hands of the patients with the parkinsonian syndromes, and thus,requirements of the patients can be met.

The present invention relates to a compound having a blocking effect against sodium ion channels, particularly Nav1.7, a preparation method thereof and use thereof. The compound represented by the Formula 1 or a pharmaceutically acceptable salt, hydrate, solvate or isomer thereof can be effectively used in the prevention or treatment of pains, for example, acute pain, chronic pain, pain from nervous disease, postoperative pain, migraine, arthralgia, neuropathy, nerve injury, diabetic neuropathy, neuropathic disease, epilepsy, arrhythmia, myotonia, ataxia, multiple sclerosis, irritable bowel syndrome, urinary incontinence, visceral pain, depression, erythromelalgia, paroxysmal extreme pain disorder (PEPD).

The invention discloses a method for enabling a patient with the Parkinson's disease to write. The method comprises the following steps of: S1, arranging a performing part and an end head part which are sequentially connected, wherein the performing part comprises an X-direction motion cross strut and a Y-axis motion cross strut, the end head part comprises a fixed part arranged on an end head bottom plate, a camera and a pen head are arranged on the fixed part, and the camera faces towards the pen point of the pen head; S2, initializing and determining an initial node of the end head part; and S3, establishing a cartesian coordinate system by taking the initial node as the origin, wherein the X-axis of the coordinate system is a motion direction of the X-direction cross strut, and the Y-axis of the coordinate system is a motion direction of the Y-axis cross strut. Through the steps, the method realizes simultaneous coping of static tremor and myotonia of the Parkinson's disease, and can be applied to a hand of the patient with the Parkinson's disease to continuously accomplish text writing, so that needs of the patient are achieved.

The invention discloses an anti-tumble device for myotonia and myospasm patients. The device is characterized in that the device comprises a wrist blood pressure monitor and a treatment band, the treatment band is divided into a main treatment band and a subsidiary treatment band, and the main treatment band further comprises a second Bluetooth module, a main controller, a rechargeable battery and an electrical impulse circuit which are arranged in the main treatment band; the wrist blood pressure monitor is provided with a first Bluetooth module, and the first Bluetooth module is compatible with the second Bluetooth module, can transmit data detected by the wrist blood pressure monitor to the main controller in real time, and can also transmit signals of the main controller to the wrist blood pressure monitor; the main controller can conduct calculation on the maximum value of blood pressure changes within set time, and can control the electrical impulse circuit to work when the maximum value exceeds a set blood pressure value, electrical stimulation therapy is conducted to a user, a symptom of myospasm or myotonia is relieved, and the situation that the user tumbles in a straight mode and major damage is caused is avoided.

The invention provides a PCR detection kit for a CTG region of an atrophic myotonic protein kinase gene, the PCR detection kit comprises a reaction system, the reaction system comprises LongAmp Taq DNA polymerase, 5x GC buffer, dNTPs, a DNA sample, water and a pair of specific primer pairs, and nucleotide sequences of the specific primer pairs are respectively shown as SEQ ID NO: 1 and SEQ ID NO: 2. The method has the characteristics of strong amplification specificity and small amplification preference. The invention also provides an application of the PCR detection kit for the CTG region of the atrophic myotonic protein kinase gene. The PCR detection kit provided by the invention can be used for amplifying a hybrid allele sample carrying CTG repeated expansion, and can be used for detecting the number of CTG tribasic group repetition times of an atrophic myotonic protein kinase gene 3 '-UTR at the same time.

Condensed pyridine compounds represented by formula (I): wherein: R<1 >and R<3 >are, independently, hydrogen, halogen, lower alkyl, or lower alkoxy; R<2 >represents an amino substituent; ring A is a benzene ring, pyridine ring, thiophene ring, or furan ring; and B represents a substituent containing a ring structure. Also, pharmaceutically acceptable salt and hydrates thereof. These compounds are clinically useful medicaments having serotonin antagonism, and in particular, for treating, ameliorating, or preventing spastic paralysis. They are also useful as central muscle relaxants for ameliorating myotonia.

The invention discloses a writing system for a Parkinson's disease patient. The writing system comprises a control component. The control component comprises a control cavity. The control cavity is internally provided with a control device. The control device comprises a power supply module, an image identification module, a driving module, a buzzer, a gyroscope and a control module, wherein the power supply module is used for supplying power; the image identification module is used for identifying images collected by a camera; the driving module is used for supplying power to a coil A and a coil B; the buzzer is used for giving a sound alarm; the gyroscope is used for acquiring the accelerated speed of the control device; and the control module is used for controlling the driving module to work according to image information acquired by the image identification module and accelerated speed information acquired by the gyroscope. By means of the writing system, static tremor and myotonia of the Parkinson's disease can be dealt with at the same time; the Parkinson's disease patient can complete writing completely and coherently with the writing system in hand; and the requirement ofthe patient is met.

The invention discloses a pen used by patients with parkinsonian syndromes. The pen comprises an ink storage part, a control part, an execution part and an end head part, wherein the ink storage part,the control part, the execution part and the end head part are sequentially connected; the pen also comprises an ink delivery hose; the ink storage part comprises an ink storage chamber arranged in the ink storage part and ink is stored in the ink storage chamber; the control part comprises a control chamber body, and a controlling device is arranged in the control chamber body; and a through hole is formed in the outer wall, facing the execution part, of the control chamber body, and the controlling device is connected with the execution part through a lead line and is used for controlling motion of the execution part. According to the pen used by the patients with the parkinsonian syndromes disclosed by the invention, static tremor caused by the parkinsonian disease can be dealt simultaneously with myotonia caused by the parkinsonian disease, so that writing can be completely and continuously finished in hands of the patients with the parkinsonian syndromes, and thus, requirements of the patients can be met.