Mitochondrial encephalomyopathies are disorders caused by mitochondrial and nuclear DNA mutations which affect the nervous and muscular systems. Current therapies for mitochondrial encephalomyopathies are inadequate and mostly palliative. However, stem cell‐derived mitochondria transplantation has been demonstrated to play an key part in metabolic rescue, which offers great promise for mitochondrial encephalomyopathies. Here, we summarize the present status of stem cell therapy for mitochondrial encephalomyopathy and discuss mitochondrial transfer routes and the protection mechanisms of stem cells. We also identify and summarize future perspectives and challenges for the treatment of these intractable disorders based on the concept of mitochondrial transfer from stem cells.
Inflammatory myositis (IM) and myasthenia gravis (MG) are both immune disorders involving muscle. The concurrent presence of both conditions in the same patient is extremely rare and the diagnosis is important and challenging. Here, we report a case of concurrent myositis and myocarditis and MG without thymoma in a 69-year-old man with progressive proximal muscle weakness and dysphagia. As an atypical finding, the laboratory immunity assay showed the presence of multiple antibodies (acetylcholine receptor-Ab, titin-Ab, M7-Ab, smooth muscle alpha (SMA)-Ab, and citrate acid extract (CAE)-Ab). We predicted that thymoma-associated antibodies (titin-Ab, SMA-Ab, and CAE-Ab) and anti-M7 antibodies play an important role in the concurrent presence of MG and myositis and myocarditis. In this overlap case, immunotherapy was determined to be effective.
Rationale:
Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition, which mainly manifests as headaches, seizures, and focal neurological deficits. JAK2 mutation in myeloproliferative diseases increases the risk of CVT.
Patient concerns:
This 40-year-old woman suffered from rapidly progressive cognitive impairment and limb weakness. Her symptoms worsened while being treated with mannitol with the diagnose of cerebral hemorrhage.
Diagnosis:
The patient was diagnosed with CVT and multiple intracranial hemorrhage caused by JAK2 V617F mutation-positive primary myelofibrosis by neuroimage and whole-exome sequencing.
Intervention:
She received low-molecular-weight heparin sodium 3800 IU twice a day followed by oral anticoagulant therapy.
Outcomes:
The patient showed full recovery from limb weakness and in the follow-up period she noticed no change in her memory.
Lessons:
Clinicians should be aware of the possibility of the JAK2 V617F mutation in CVT patients without known causes or risk factors
An earthquake ML=7.1 occurred at Hotan in Xinjiang province of China on Oct.19, 1996. Three types of ULF electromagnetic precursors were recorded before the earthquake: (1) Drift of the electic potential, (2) Rotating of the major axis of horizontal polarization ellipse to perpendicular to the station epicenter line, and (3) ULF electromagnetic radiation with large amplitude. A simple dipole model for the generation of these precursors is proposed. Based on this model, we discussed the effect of static electric field inducted by a dipole on the variation of voltage and polarization axis direction.
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