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Introduction: Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G-->A).Materials and Methods: HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia.Results and Discussion: Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA.Conclusion: The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother. [ABSTRACT FROM AUTHOR]

In our recent study, we observed consistent increases in miR-124-3p levels in exosomes derived from cultured BV2 microglia which was treated with repetitive traumatic brain injury (rTBI) mouse model brain extracts. To clarify the mechanisms underlying increases in microglia-derived exosomal miR-124-3p and their role in regulating neuronal autophagy after TBI, we investigated the impact of exosomal miR-124-3p on neuronal autophagy in scratch-injured HT22 neurons and rTBI mice. We harvested injured brain extracts from rTBI mice at 3 to 21 days post injury (DPI) for the treatment of cultured BV2 microglia in vitro. We observed significant induction of autophagy following TBI in vitro, and that inhibition of activated neuronal autophagy could protect against trauma-induced injury. Our results indicated that co-culture of injured HT22 neurons with miR-124-3p overexpressing BV2 microglia exerted a protective effect by inhibiting neuronal autophagy in scratch-injured neurons. Further research revealed that these effects were achieved mainly via upregulation of exosomal miR-124-3p, and that Focal adhesion kinase family-interacting protein of 200 kDa (FIP200) plays a key role in trauma-induced autophagy. Injection of exosomes into the vena caudalis in in vivo experiments revealed that exosomal miR-124-3p was associated with decreases in the modified neurological severity score (mNSS) and improvements in Morris water maze (MWM) test results in rTBI mice. Altogether, our results indicate that increased miR-124-3p in microglial exosomes following TBI may inhibit neuronal autophagy and protect against nerve injury via their transfer into neurons. Thus, treatment with microglial exosomes enriched with miR-124-3p may represent a novel therapeutic strategy for the treatment of nerve injury after TBI. [ABSTRACT FROM AUTHOR]

The goal of this study was to analyze the patterns, therapeutic modalities, and short-term outcomes of patients with chest injuries in the aftermath of the Wen-Chuan earthquake, which occurred on May 12, 2008 and registered 8.0 on the Richter scale. Of the 1522 patients who were referred to the West China Hospital of Sichuan University from May 12 to May 27, 169 patients (11.1%) had suffered major chest injuries. The type of injury, the presence of infection, Abbreviated Injury Score (AIS 2005), New Injury Severity Score (NISS), treatment, and short-term outcome were all documented for each case. Isolated chest injuries were diagnosed in 129 patients (76.3%), while multiple injuries with a major chest trauma were diagnosed in 40 patients (23.7%). The mean AIS and the median NISS of the hospitalized patients with chest injuries were 2.5 and 13, respectively. The mortality rate was 3.0% (5 patients). Most of the chest injuries were classified as minor to moderate trauma; however, coexistent multiple injuries and subsequent infection should be carefully considered in medical response strategies. Coordinated efforts among emergency medical support groups and prior training in earthquake preparedness and rescue in earthquake-prone areas are therefore necessary for efficient evacuation and treatment of catastrophic casualties. [ABSTRACT FROM AUTHOR]