7 research outputs found
Π‘ΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΡΠ΅ ΡΠ΅Π½Π΄Π΅Π½ΡΠΈΠΈ Π² Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ΅, ΡΠΊΡΠΈΠ½ΠΈΠ½Π³Π΅ ΠΈ Π»Π΅ΡΠ΅Π½ΠΈΠΈ ΡΠΏΠΈΠ½Π°Π»ΡΠ½ΠΎΠΉ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ Π°ΡΡΠΎΡΠΈΠΈ
Spinal muscular atrophy is one of the most severe hereditary neuromuscular diseases and one of the main causes of infant mortality caused by hereditary diseases. Being a monogenic disease, SMA is characterized by a wide range of phenotypes, which are based on the influence of genetic modifiers of the disease. These modifiers determine the development of a more severe or milder form of the disease and can act as potential targets of disease therapy. To date, there are three certified drugs for the treatment of SMA, the action of two of them is directed at the transcript of the main modifier of the disease the SMN2 gene. With the advent of effective therapy, the issue of screening newborns for the purpose of early detection of patients and the beginning of treatment of SMA at the presymptomatic phase to achieve maximum effectiveness of drugs becomes relevant. In addition to neonatal screening, population screening plays an important role, which may result in a decrease in the frequency of births of children with SMA.Π‘ΠΏΠΈΠ½Π°Π»ΡΠ½Π°Ρ ΠΌΡΡΠ΅ΡΠ½Π°Ρ Π°ΡΡΠΎΡΠΈΡ (Π‘ΠΠ) ΡΠ²Π»ΡΠ΅ΡΡΡ ΠΎΠ΄Π½ΠΈΠΌ ΠΈΠ· Π½Π°ΠΈΠ±ΠΎΠ»Π΅Π΅ ΡΡΠΆΠ΅Π»ΡΡ
Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ
Π½Π΅ΡΠ²Π½ΠΎ-ΠΌΡΡΠ΅ΡΠ½ΡΡ
Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ ΠΈ ΠΎΠ΄Π½ΠΎΠΉ ΠΈΠ· ΠΎΡΠ½ΠΎΠ²Π½ΡΡ
ΠΏΡΠΈΡΠΈΠ½ ΠΌΠ»Π°Π΄Π΅Π½ΡΠ΅ΡΠΊΠΎΠΉ ΡΠΌΠ΅ΡΡΠ½ΠΎΡΡΠΈ, Π²ΡΠ·Π²Π°Π½Π½ΠΎΠΉ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΠΌΠΈ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡΠΌΠΈ. Π―Π²Π»ΡΡΡΡ ΠΌΠΎΠ½ΠΎΠ³Π΅Π½Π½ΡΠΌ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠ΅ΠΌ, Π‘ΠΠ Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΠ·ΡΠ΅ΡΡΡ ΡΠΈΡΠΎΠΊΠΈΠΌ ΡΠΏΠ΅ΠΊΡΡΠΎΠΌ ΡΠ΅Π½ΠΎΡΠΈΠΏΠΎΠ², Π² ΠΎΡΠ½ΠΎΠ²Π΅ ΠΊΠΎΡΠΎΡΡΡ
Π»Π΅ΠΆΠΈΡ Π²Π»ΠΈΡΠ½ΠΈΠ΅ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΌΠΎΠ΄ΠΈΡΠΈΠΊΠ°ΡΠΎΡΠΎΠ² Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ. ΠΠ°Π½Π½ΡΠ΅ ΠΌΠΎΠ΄ΠΈΡΠΈΠΊΠ°ΡΠΎΡΡ ΠΎΠΏΡΠ΅Π΄Π΅Π»ΡΡΡ ΡΠ°Π·Π²ΠΈΡΠΈΠ΅ Π±ΠΎΠ»Π΅Π΅ ΡΡΠΆΠ΅Π»ΠΎΠΉ ΠΈΠ»ΠΈ Π±ΠΎΠ»Π΅Π΅ Π»Π΅Π³ΠΊΠΎΠΉ ΡΠΎΡΠΌΡ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ ΠΈ ΠΌΠΎΠ³ΡΡ Π²ΡΡΡΡΠΏΠ°ΡΡ Π² ΠΊΠ°ΡΠ΅ΡΡΠ²Π΅ ΠΏΠΎΡΠ΅Π½ΡΠΈΠ°Π»ΡΠ½ΡΡ
ΠΌΠΈΡΠ΅Π½Π΅ΠΉ Π΅Π³ΠΎ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ. ΠΠ° ΡΠ΅Π³ΠΎΠ΄Π½ΡΡΠ½ΠΈΠΉ Π΄Π΅Π½Ρ ΡΡΡΠ΅ΡΡΠ²ΡΡΡ ΡΡΠΈ ΡΠ΅ΡΡΠΈΡΠΈΡΠΈΡΠΎΠ²Π°Π½Π½ΡΡ
ΠΏΡΠ΅ΠΏΠ°ΡΠ°ΡΠ° Π΄Π»Ρ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ Π‘ΠΠ, Π΄Π΅ΠΉΡΡΠ²ΠΈΠ΅ Π΄Π²ΡΡ
ΠΈΠ· Π½ΠΈΡ
Π½Π°ΠΏΡΠ°Π²Π»Π΅Π½ΠΎ Π½Π° ΡΡΠ°Π½ΡΠΊΡΠΈΠΏΡ ΠΎΡΠ½ΠΎΠ²Π½ΠΎΠ³ΠΎ ΠΌΠΎΠ΄ΠΈΡΠΈΠΊΠ°ΡΠΎΡΠ° Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ Π³Π΅Π½Π° SMN2. Π‘ ΠΏΠΎΡΠ²Π»Π΅Π½ΠΈΠ΅ΠΌ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΠΉ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ Π°ΠΊΡΡΠ°Π»ΡΠ½ΡΠΌ ΡΡΠ°Π½ΠΎΠ²ΠΈΡΡΡ Π²ΠΎΠΏΡΠΎΡ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³Π° Π½ΠΎΠ²ΠΎΡΠΎΠΆΠ΄Π΅Π½Π½ΡΡ
Ρ ΡΠ΅Π»ΡΡ ΡΠ°Π½Π½Π΅Π³ΠΎ Π²ΡΡΠ²Π»Π΅Π½ΠΈΡ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² ΠΈ Π½Π°ΡΠ°Π»Π° Π»Π΅ΡΠ΅Π½ΠΈΡ Π‘ΠΠ Π½Π° ΠΏΡΠ΅ΡΠΈΠΌΠΏΡΠΎΠΌΠ°ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΡΠ°Π·Π΅ Π΄Π»Ρ Π΄ΠΎΡΡΠΈΠΆΠ΅Π½ΠΈΡ ΠΌΠ°ΠΊΡΠΈΠΌΠ°Π»ΡΠ½ΠΎΠΉ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΡΡΠΈ ΠΏΡΠ΅ΠΏΠ°ΡΠ°ΡΠΎΠ². ΠΠΎΠΌΠΈΠΌΠΎ Π½Π΅ΠΎΠ½Π°ΡΠ°Π»ΡΠ½ΠΎΠ³ΠΎ, Π²Π°ΠΆΠ½ΡΡ ΡΠΎΠ»Ρ ΠΈΠ³ΡΠ°Π΅Ρ ΠΏΠΎΠΏΡΠ»ΡΡΠΈΠΎΠ½Π½ΡΠΉ ΡΠΊΡΠΈΠ½ΠΈΠ½Π³, ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΠΎΠΌ ΠΊΠΎΡΠΎΡΠΎΠ³ΠΎ ΠΌΠΎΠΆΠ΅Ρ Π±ΡΡΡ ΡΠ½ΠΈΠΆΠ΅Π½ΠΈΠ΅ ΡΠ°ΡΡΠΎΡΡ ΡΠΎΠΆΠ΄Π΅Π½ΠΈΡ Π΄Π΅ΡΠ΅ΠΉ, Π±ΠΎΠ»ΡΠ½ΡΡ
Π‘ΠΠ
Relationship between platinum-bearing ultramafic-mafic intrusions and large igneous provinces (exemplified by the Siberian Craton)
This study aims at summarizing available geological and geochemical data on known Proterozoic platinum-bearing ultramafic-mafic massifs in the south of Siberia. Considering new data on geochemistry and geochronology of some intrusions, it was feasible to compare ore-bearing complexes of different time spans and areas and to follow their relationships with the recognized large igneous provinces. In the south of Siberia, the platinum-bearing massifs might be united into three age groups: Late Paleoproterozoic (e.g., Chiney complex, Malozadoisky massif), Late Mesoproterozoic (e.g., Srednecheremshansky massif), and Neoproterozoic (e.g., Kingash complex, Yoko-Dovyren massif, and massifs in the center of the East Sayan Mts.). In most massifs but Chiney the initial magmas are magnesium-rich. On paleogeodynamic reconstructions, the position of the studied massifs is the evidence that three most precisely dated events in North Canada continued into southern Siberia: In the period 1880-1865 Ma, it was the Ghost-Mara River-Morel LIP; at 1270-1260 Ma, the Mackenzie LIP; and at 725-720 Ma, Franklin LIP. In Siberia, the mostly productive massifs with respect to PGE-Ni-Cu mineralization are those linked with the Franklin LIP: Verkhny Kingash, Yoko-Dovyren, and central part of the Eastern Sayan Mountains, e.g., Tartay, Zhelos, and Tokty-Oy