To analyze the DNA sequences and clinical phenotypes of four cases with rare thalassemia to improve its recognition and accurate diagnosis.
The DNA sequence characteristics of four cases with rare ...thalassemia diagnosed from May 2014 to December 2019 were retrospectively analyzed, and related literature was reviewed.
The results of the routine gene test for thalassemia indicated that the common three type of deletion and three point mutations in hemoglobin alpha 1/2 (HBA1/A2) , and 16 point mutations in hemoglobin beta (HBB) gene were unable to be detected in cases 1-3, and case 4 was--SEA. However, the results of HBA1/A2 and HBB whole-genome sequencing revealed that the four cases had a point mutation of HBB:c.347C>A, HBB:c.1A>G, HBB:c.393T>G, and HBA2: c.301-1G>A (IVS II-142 G>A) , respectively. Meanwhile, the father, aunt, and grandfather of case 2 carried the HBB:c.1 A>G heterozygous point mutation.
The novel mutations in HBB and HBA2 genes, resulting in a rare thalassemia, were revealed. Among them, the H
► Corrosion behaviors of porous and dense NiTi alloys were systematically compared. ► Non-uniform potential distribution within porous electrodes aggravates localized corrosion. ► Improvement of ...pores interconnection can help reduce localized corrosion. ► Corrosion behaviors are dominated by combined action of pore structure characteristics.
The corrosion behaviors of porous and dense NiTi shape memory alloys with the same nominal composition were investigated in a 0.9% aqueous NaCl solution using electrochemical methods. The study clarified the role of the porous structure in influencing the corrosion behavior of the porous NiTi alloys, which exhibited porosity values ranging from 35.5% to 63.8%. The results indicated that the porous NiTi alloy was more susceptible to localized corrosion than was the dense NiTi alloy. However, the porous NiTi alloy sample with a higher porosity did not suffer more serious corrosion than the one with a lower porosity. Furthermore, the potential distribution exists on the pore wall of the porous NiTi alloys as a result of current flow within the pore electrolyte. Thus, the role of potential distribution inside the pore and porous structure in the corrosion behavior of the porous NiTi alloys is an important factor.
Abstract The hippocampus, a major site of neurogenesis in the adult brain, plays an important role in memory. Based on earlier observations where exposure to high-intensity noise not only caused ...hearing loss but also impaired memory function, it is conceivably that noise exposure may suppress hippocampal neurogenesis. To evaluate this possibility, nine rats were unilaterally exposed for 2 h to a high-intensity, narrow band of noise centered at 12 kHz at 126 dB SPL. The rats were also screened for noise-induced tinnitus, a potential stressor which may suppress neurogenesis. Five rats developed persistent tinnitus-like behavior while the other four rats showed no signs of tinnitus. Age-matched sham controls showed no signs of hearing loss or tinnitus. The inner ear and hippocampus were evaluated for sensory hair cell loss and neurogenesis 10 weeks post-exposure. All noise exposed rats showed severe loss of sensory hair cells in the noise-exposed ear, but essentially no damage in the unexposed ear. Frontal sections from the hippocampus were immunolabeled for doublecortin to identify neuronal precursor cells, or Ki67 to label proliferating cells. Noise-exposed rats showed a significant reduction of neuronal precursors and fewer dividing cells as compared to sham controls. However, we could not detect any difference between rats with behavioral evidence of tinnitus versus rats without tinnitus. These results show for the first time that high intensity noise exposure not only damages the cochlea but also causes a significant and persistent decrease in hippocampal neurogenesis that may contribute to functional deficits in memory.
Background: Levodopa is regarded as a standard medication in Parkinson disease (PD) treatment. However, long-term administration of levodopa leads to levodopa-induced dyskinesia (LID), which can ...markedly affect patient quality of life. Previous studies have shown that neuroinflammation in the brain plays a role in LID and increases potential neuroinflammatory mediators associated with the side effects of levodopa. Objective: Lhe treatment effect of C16 (a peptide that competitively binds integrin alphavbeta3 and inhibits inflammatory cell infiltration) and angiopoietin-1 (Ang-1; a vascular endothelial growth factor vital for blood vessel protection), along with levodopa, was evaluated in a rodent model of PD. Methods: We administered a combination of C16 and Ang-1 in a rodent model of PD induced by MPLP (l-methyl-4-phenyl-1,2,3,6-tetrahydropyridine). Seventy-five mice were randomly divided into five treatment groups: control, vehicle, levodopa, C16 +Ang-1, and levodopa+C16+Ang-l. Behavioral, histological, and electrophysiological experiments were used to determine neuron function and recovery. Results: Lhe results showed that C16+Ang-1 treatment alleviated neuroinflammation in the CNS and promoted the recovery effects of levodopa on neural function. Conclusion: Our study suggests that C16+Ang-1 can compensate for the shortcomings of levodopa, improve the CNS microenvironment, and ameliorate the effects of levodopa. Lhis treatment strategy could be developed as a combinatorial therapeutic in the future. Keywords: levodopa-induced dyskinesia, Parkinson's disease, C16+Ang-1 treatment, neuroinflammation, microenvironment
A better understanding of the molecular effects of aging in the brain may help to reveal important aspects of organismal aging, as well as processes that lead to age-related brain dysfunction. In ...this study, we have examined differences in gene expression in the hypothalamus and cortex of young and aged mice by using high-density oligonucleotide arrays. A number of key genes involved in neuronal structure and signaling are differentially expressed in both the aged hypothalamus and cortex, including synaptotagmin I, cAMP-dependent protein kinase C β, apolipoprotein E, protein phosphatase 2A, and prostaglandin D. Misregulation of these proteins may contribute to age-related memory deficits and neurodegenerative diseases. In addition, many proteases that play essential roles in regulating neuropeptide metabolism, amyloid precursor protein processing, and neuronal apoptosis are up-regulated in the aged brain and likely contribute significantly to brain aging. Finally, a subset of these genes whose expression is affected by aging are oppositely affected by exposure of mice to an enriched environment, suggesting that these genes may play important roles in learning and memory.
With the trend of amplified warming in the Arctic, we examine the observed and modeled top-of-atmosphere (TOA) radiative responses to surface air-temperature changes over the Arctic by using TOA ...energy fluxes from NASA's CERES observations and those from twelve climate models in CMIP5. Considerable inter-model spreads in the radiative responses suggest that future Arctic warming may be determined by the compensation between the radiative imbalance and poleward energy transport (mainly via transient eddy activities). The poleward energy transport tends to prevent excessive Arctic warming: the transient eddy activities are weakened because of the reduced meridional temperature gradient under polar amplification. However, the models that predict rapid Arctic warming do not realistically simulate the compensation effect. This role of energy compensation in future Arctic warming is found only when the inter-model differences in cloud radiative effects are considered. Thus, the dynamical response can act as a buffer to prevent excessive Arctic warming against the radiative response of 0.11 W m
K
as measured from satellites, which helps the Arctic climate system retain an Arctic climate sensitivity of 4.61 K. Therefore, if quantitative analyses of the observations identify contribution of atmospheric dynamics and cloud effects to radiative imbalance, the satellite-measured radiative response will be a crucial indicator of future Arctic warming.
The rapid development of professional technology not only brings great benefits to patients, but also reveals the problem of non-technical skills. Technical competence is not enough to avoid the ...occurrence of adverse medical events or to get optimal post-operative outcomes. The development of technology is endless, we are desperately in need of non-technical skills, such as situation awareness, decision making, communication and teamwork, leadership. The only way we could achieve in the assistance of the perfect surgical operation with the combination of excellent surgical techniques and solid non-technical skills, and therefore relieve the patients as much as possible.
Summary
The Airtraq laryngoscope is a single‐use laryngoscope designed to facilitate tracheal intubation in patients with either normal or difficult airways. The aim of this systematic review and ...meta‐analysis was to compare the Airtraq with the conventional Macintosh laryngoscope. Data were retrieved from Medline, Embase, the Cochrane register of controlled trials, and by a manual search of bibliographies. Twelve randomised controlled trials (published between 2006 and 2011) including 1061 patients met the inclusion criteria. The Airtraq reduced intubation time significantly (mean difference −15 s; 95% CI −25 to −4 s, p < 0.00001) used by both experienced anaesthetists and novices, and it increased the first attempt success rate only in novices (relative risk 1.25; 95% CI 1.05–1.49, p = 0.07). The incidence of oesophageal intubation (relative risk 0.12; 95% CI 0.03–0.48, p < 0.05) was significantly reduced by the Airtraq. We conclude that the Airtraq laryngoscope facilitates a more rapid and accurate intubation, especially when used by novices.
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Understanding x-ray radiation damage is a crucial issue for both medical applications of x rays and x-ray free-electron-laser (XFEL) science aimed at molecular imaging. Decrypting the charge and ...fragmentation dynamics of nucleobases, the smallest units of a macro-biomolecule, contributes to a bottom-up understanding of the damage via cascades of phenomena following x-ray exposure. We investigate experimentally and by numerical simulations the ultrafast radiation damage induced on a nucleobase analogue (5-iodouracil) by an ultrashort (10 fs) high-intensity radiation pulse generated by XFEL at SPring-8 Angstrom Compact free electron Laser (SACLA). The present study elucidates a plausible underlying radiosensitizing mechanism of 5-iodouracil. This mechanism is independent of the exact composition of 5-iodouracil and thus relevant to other such radiosensitizers. Furthermore, we found that despite a rapid increase of the net molecular charge in the presence of iodine, and of the ultrafast release of hydrogen, the other atoms are almost frozen within the 10-fs duration of the exposure. This validates single-shot molecular imaging as a consistent approach, provided the radiation pulse used is brief enough.
Classical molecular dynamics is applied to study the energy dissipation (the Q factor) of the cantilever-type beam oscillators of single wall and double-walled carbon nanotubes (CNTs). The study ...finds that the Q factor of the CNT beam oscillator varies with the temperature T following the 1/T(0.36) dependence. For single wall CNT, the Q factor drops from 2 x 10(5) at 0.05 K to 1.5 x 10(3) at 293 K. The study further reveals that the weak interlayer binding strength and the interlayer commensurance significantly increases the energy dissipation in the double-walled CNT oscillator.
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