Clinics
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Fabry disease (FD) is an X-linked lysosomal disease caused by variants of the GLA gene; the formation of defective alpha-galactosidase A contributes to the accumulation of substrates in several organs. Chronic inflammation is thought to contribute to organ damage in FD patients. ⋯ FD was associated with elevated serum levels of IL-6 and TNF-α in this cohort. The FD patients treated with ERT, particularly, women, exhibited higher levels of serum IL-6 and TNF-α than those not treated with ERT; the serum IL-6 and TNF-α levels were correlated with the MSSI scores reflecting greater disease burden.
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Observational Study
Effect of hip fracture on prognosis of acute cerebral infarction.
Hip fractures are a worldwide public health problem. The incidence of hip fracture is high among the elderly, and it is an important cause of death and disability in this population. This observational study aimed to investigate the effect of acute hip fracture on the recovery of neurological function and the prognosis of patients with acute cerebral infarction, as well as whether surgical treatment of combined acute fracture can improve the prognosis of patients. ⋯ Acute cerebral infarction combined with hip fracture leads to worse neurological recovery, prolonged hospitalization period, increased complications, decreased patient prognosis, and increased one-year mortality. Surgical treatment improves the prognosis of patients with acute cerebral infarction. These findings may provide insights into the management of acute cerebral infarction.
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To evaluate the presentation characteristics and disease course of seven patients with COVID-19 who spontaneously developed pneumomediastinum without a history of mechanical ventilation. ⋯ In our study, the frequency of spontaneous pneumomediastinum developing without pneumothorax was found to be high in non-intubated patients. Whether this is related to the nature of the disease or it is a result of the increase in cases diagnosed incidentally owing to the increasing use of low-dose computed tomography should be explored in further studies.
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To investigate the clinical utility of serum microRNA levels (miR-9-5p and miR-128-3p) in the diagnosis and prognosis of early-stage acute ischemic stroke (AIS). ⋯ Assessment of serum miR-9-5p and miR-128-3p levels is important for the early diagnosis and prognosis of AIS.
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To analyze central auditory maturation in term and preterm infants during the first 3 months of life by comparing the latency and amplitude of cortical auditory-evoked potential at different frequencies. ⋯ Central auditory maturation was observed in both groups but with different results between those born at term and preterm, with latencies of cortical auditory-evoked potential higher for the preterm group and at high frequencies.