Krygerbreen6324

This comprehensive MDSGene review is devoted to 7 genes - TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA - mutations in which may cause isolated dystonia. It followed MDSGene's standardized data extraction protocol and screened a total of ~1200 citations. Phenotypic and genotypic data on ~1200 patients with 254 different mutations were curated and analyzed. There were differences regarding age at onset, site of onset, and distribution of symptoms across mutation carriers in all 7 genes. Although carriers of TOR1A, THAP1, PRKRA, KMT2B, or HPCA mutations mostly showed childhood and adolescent onset, patients with GNAL and ANO3 mutations often developed first symptoms in adulthood. GNAL and KMT2B mutation carriers frequently have 1 predominant site of onset, that is, the neck (GNAL) or the lower limbs (KMT2B), whereas site of onset in DYT-TOR1A, DYT-THAP1, DYT-ANO3, DYT-PRKRA, and DYT-HPCA was broader. However, in most DYT-THAP1 and DYT-ANO3 patients, dystonia first manifested in the upper half of the body (upper limb, neck, and craniofacial/laryngeal), whereas onset in DYT-TOR1A, DYT-PRKRA and DYT-HPCA was frequently observed in an extremity, including both upper and lower ones. For ANO3, a segmental/multifocal distribution was typical, whereas TOR1A, PRKRA, KMT2B, and HPCA mutation carriers commonly developed generalized dystonia. THAP1 mutation carriers presented with focal, segmental/multifocal, or generalized dystonia in almost equal proportions. GNAL mutation carriers rarely showed generalization. This review provides a comprehensive overview of the current knowledge of hereditary isolated dystonia. The data are also available in an online database (http//www.mdsgene.org), which additionally offers descriptive summary statistics. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

In the last 30years, several treatments have been proposed to treat subchondral cystic lesions (SCLs) but there have been no randomised studies to compare different methods and there is no consensus as to the optimal treatment.

To evaluate a biocompatible absorbable implant for the treatment of SCLs in young horses in different anatomical locations.

Retrospective case series.

Horses with SCLs were treated with debridement through a trans-cortical extra-articular approach and an absorbable implant was inserted in the cavity. Clinical and radiographic follow-up was recorded and follow up ranged from 28 to 46months (mean 37months). Racing records were reviewed.

Thirty-eight horses between 10 and 24months of age were included in the study. In 36 of 38 horses treated, lameness resolved, and 77% average filling of the cyst was measured 120days after surgery on radiographs. In two cases, surgical complications were recorded.

Information about the resorption of the implant is not available. Radiographs were performed in various hospitals or at farms or training stables, therefore, possible minor variations in technique and positioning occurred.

The extra-articular approach to the SCLs followed by the insertion of the absorbable implant led to clinical and radiographic improvement of the SCLs at 120days after surgery. This technique, feasible in different anatomical locations, may offer an alternative to treat SCLs in young horses.

The extra-articular approach to the SCLs followed by the insertion of the absorbable implant led to clinical and radiographic improvement of the SCLs at 120 days after surgery. This technique, feasible in different anatomical locations, may offer an alternative to treat SCLs in young horses.This study aimed to explore the neuroprotective effect of icariin/icaritin (ICA/ICT) and the role of ICA/ICT in the treatment of Alzheimer's disease (AD). ICA and ICT were used to treat okadaic acid (OA)-induced Tau hyperphosphorylation in SH-SY5Y cells. We detected the relative changes in Tau, p-Tau, protein phosphatase 2A (PP2A), and glycogen synthase kinase 3β (GSK-3β) by Western blotting and enzyme-linked immunosorbent assay. At 40 nmol/L OA, the cell viability of the SH-SY5Y cells was significantly changed. We used different concentrations of ICA and IC to treat AD model cells and found that the effect of 2.5 μmol/L ICA and 1 μmol/L ICT was best after 48 H of treatment. After SH-SY5Y cell induction, the p-Tau levels were increased (P 0.05). We found that ICA and ICT exert an effect on AD model cells by decreasing the levels of GSK-3β and p-Tau. check details The therapeutic effect of ICT is slightly better than that of ICA. Although these drugs were effective in the cell model, more studies are required to determine whether they are promising for the treatment and prevention of AD.Neurodegenerative disorders, characterized by progressive neuronal loss, eventually lead to functional impairment in the adult mammalian central nervous system (CNS). Importantly, these deteriorations are irreversible, due to the very limited regenerative potential of these CNS neurons. Stimulating and redirecting neuroinflammation was recently put forward as an important approach to induce axonal regeneration, but it remains elusive how inflammatory processes and CNS repair are intertwined. To gain more insight into these interactions, we investigated how immunomodulation affects the regenerative outcome after optic nerve crush (ONC) in the spontaneously regenerating zebrafish. First, inducing intraocular inflammation using zymosan resulted in an acute inflammatory response, characterized by an increased infiltration and proliferation of innate blood-borne immune cells, reactivation of Müller glia, and altered retinal cytokine expression. Strikingly, inflammatory stimulation also accelerated axonal regrowth after optic nerve injury. Second, we demonstrated that acute depletion of both microglia and macrophages in the retina, using pharmacological treatments with both the CSF1R inhibitor PLX3397 and clodronate liposomes, compromised optic nerve regeneration. Moreover, we observed that csf1ra/b double mutant fish, lacking microglia in both retina and brain, displayed accelerated RGC axonal regrowth after ONC, which was accompanied with unusual Müller glia proliferative gliosis. Altogether, our results highlight the importance of altered glial cell interactions in the axonal regeneration process after ONC in adult zebrafish. Unraveling the relative contribution of the different cell types, as well as the signaling pathways involved, may pinpoint new targets to stimulate repair in the vertebrate CNS.