14 results about "Nodular sclerosis" patented technology

To provide Akt3 modulators and compounds and pharmaceutical compositions for treating diseases by modulation of Akt3 signaling.SOLUTION: A compound of Formula Ib or Ic, or a pharmaceutically acceptable salt thereof, and a pharmaceutical composition comprising said compound for treating a disease in a subject in need thereof, A pharmaceutical composition wherein the treatment comprises administering to a subject an effective amount of the compound; optionally wherein the disease is selected from the group consisting of neurodegenerative diseases, cachexia, eating disorders, obesity, complications of obesity, inflammatory diseases, virally-induced inflammatory reactions, Gulf War Syndrome, tuberous sclerosis, retinitis pigmentosa, graft rejection, cancer, autoimmune diseases, ischemic tissue injury, traumatic tissue injury and combinations thereof.SELECTED DRAWING: Figure 6

The invention belongs to the technical field of medicine application, discloses application of paeoniflorin in preparation of medicine for treating nodular sclerosis, and particularly discloses application of paeoniflorin or pharmaceutically acceptable salt thereof in preparation of medicine for treating and / or preventing hereditary intelligence and cognitive dysfunction diseases. The new medicinal value of the known compound paeoniflorin is explored, the paeoniflorin is used for treating the hereditary intellectual and cognitive impairment diseases (such as nodular sclerosis) and can be prepared into the medicine for treating the hereditary intellectual and cognitive impairment diseases, and a new application field is developed for application of radix paeoniae alba and radix paeoniae rubra medicinal materials.

There is provided a method of treating nodular sclerosis (TSC) or epilepsy comprising administering to a subject a compound of Formula (I), (II), or (III): or a pharmaceutically acceptable salt thereof wherein X is halogen. Also provided is a composition for use in a method of treating TSC or epilepsy comprising administering to a subject in need thereof a composition comprising a compound of Formula (I), (II) or (III) as shown above.

The present disclosure relates to methods for treating tuberous sclerosis complex or tuberous sclerosis complex-related epilepsy, the methods comprising administering to a subject in need thereof a therapeutically effective amount of a pharmaceutically acceptable pregnenolone neurosteroid, such as ganaxolone, to alleviate one or more symptoms of tuberous sclerosis complex or tuberous sclerosis complex-related epilepsy.

A biomarker for Tuberous sclerosis complex (TSC) with no mutation identified (NMI) in the TSC1 or TSC2 gene and a use thereof is provided. The biomarker is the expression level of IQGAP2 gene. The present disclosure analyzed and compared the whole-exon sequencing / clinical whole-exon sequencing results of TSC-NMI (No Mutation Identified, i.e., tuberous sclerosis complex with no mutation identified (NMI) in the TSC1 or TSC2 gene) patients with those of TSC patients having pathogenic mutations in TSC1 and TSC2 gene, and found a number of potential pathogenic candidate genes for TSC-NMI. Based on the long-term accumulated experience and experimental validation in this field, it was finally found that the IQGAP2 gene is related to TSC-NMI. Thus, IQGAP2 gene can be detected, and used as a detection marker for TSC-NMI and has potential as a drug target for treating the TSC-NMI patients.

The present disclosure relates to methods for treating haploinsufficiency neurodevelopmental disorders associated with genes selected from TSC1, TSC2, NSD1, KMT2D, KDM6A, CREBBP, EP300, KANSL1 and RAI1, comprising administration of dual orexin receptor antagonists (DORAs) and / or orexin receptor antagonists (ORAs). The present disclosure further provides methods for treating tuberous sclerosis complex (TSC) by administration of DORAs and / or selective histone deacetylase inhibitors.

The invention discloses a biomarker for auxiliary diagnosis or evaluation of epilepsy related to nodular sclerosis and application of the biomarker. The biomarker comprises any one or a combination of at least two of a complement component 7, N-acetylgalactosamine transferase 3, an ecological virus integration site 5, a hemoglobin subunit theta 1 or leukotriene A4 hydrolase. The invention provides a protein biomarker combination which is low in invasiveness and easy to quantify and can be used for preoperative evaluation, postoperative prognosis judgment and curative effect monitoring and a detection method thereof, and the accuracy and reliability of nodular sclerosis related epilepsy diagnosis and risk evaluation are remarkably improved.

The invention provides application of AS-605240 in treatment of renal vascular smooth muscle lipoma related to nodular sclerosis, and belongs to the technical field of biological medicine. According to the application disclosed by the invention, the AS-605240 can be used for directly inhibiting the cell growth of the renal vascular smooth muscle lipoma related to the nodular sclerosis, and the AS-605240 can be used for preparing a medicine for resisting the renal vascular smooth muscle lipoma related to the nodular sclerosis, so that a new potential medicine is provided for treating the renal vascular smooth muscle lipoma related to the nodular sclerosis. The invention proves that AS-605240 can promote apoptosis of renal vascular smooth muscle lipoma cells related to the nodular sclerosis through a non-mTOR target point PI3K / AKT, so that the AS-605240 can treat the renal vascular smooth muscle lipoma related to the nodular sclerosis, and has good treatment and improvement effects on the renal vascular smooth muscle lipoma related to the nodular sclerosis.

The invention belongs to the technical field of biological medicine, and relates to application of a new target spot in epilepsy related to nodular sclerosis, a composition and a drug combination mode. The invention proves that when a combination of a high-dose SLC6A1 inhibitor, a medium-dose GAD1 function enhancer and a low-dose SLC1A2 activator is adopted, the average epileptic seizure frequency of an experimental animal is lower than or close to that of a combined medication group with the same dose or is also lower than that of a single-drug experimental group, and the effectiveness of the combination of SLC6A1 as a core and GAD1 and SLC1A2 as synergistic targets is proved.

In various aspects and embodiments the invention provides a method of treating epilepsy in a subject in need thereof, the method comprising providing to the subject an effective amount of an FLNA modulator. In various embodiments, the FLNA modulator is PTI-125 or kartogenin. In various embodiments, the epilepsy is epilepsy associated with focal cortical dysplasia (FCD) type II or tuberous sclerosis complex (TSC).

The present invention discloses a benzenesulfonamide compound, a pharmaceutical composition and application thereof. The compound of the present invention has the effect of promoting melanin production, has obvious effect and low toxicity, and can be used for preparing a drug for treating skin depigmentation or depigmentation-related diseases, wherein the skin depigmentation includes vitiligo, tuberous sclerosis, Ito hypopigmentation, mottled disease, oculocutaneous albinism syndrome, phenylketonuria, idiopathic punctate hypopigmentation, Comfetti spots, Vagabond's leukosis, etc.

In various aspects and embodiments the invention provides a method of treating epilepsy in a subject in need thereof, the method comprising providing to the subject an effective amount of an FLNA modulator. In various embodiments, the FLNA modulator is PTI-125 or kartogenin. In various embodiments, the epilepsy is epilepsy associated with focal cortical dysplasia (FCD) type II or tuberous sclerosis complex (TSC).

Administration of molindone for the treatment of the aberrant behavior and motor activity symptoms associated with autism spectrum disorders (ADS), also found in subjects diagnosed with Fragile X, tuberous sclerosis, Smith-Lemli-Opitz syndrome, and maternally-inherited duplications of the Prader-Willi / Angelman syndrome region, is disclosed.

The invention belongs to the technical field of biological medicines, and particularly relates to application of cinobufotalin in preparation of a medicine for resisting renal vascular smooth muscle lipoma related to nodular sclerosis. The cinobufotalin can be used for directly inhibiting the growth of renal vascular smooth muscle lipoma cells related to the nodular sclerosis and improving the protein expression level of an apoptosis marker of the renal vascular smooth muscle lipoma cells related to the nodular sclerosis, and the cinobufotalin can be used for preparing the medicine for resisting the renal vascular smooth muscle lipoma cells related to the nodular sclerosis. Meanwhile, cinobufotalin is low in cost, and a novel, effective and low-cost potential medicine is provided for treatment of renal vascular smooth muscle lipoma related to nodular sclerosis.