RESUMO
BACKGROUND: Surfactant protein C (SP-C) disorder is a major component of hereditary interstitial lung disease (HILD) among Japanese. The correlation between clinical outcomes and the phenotype/genotype of SP-C disorder has not been evaluated comprehensively. The current study aimed to evaluate the phenotype/genotype correlated with poor outcomes in patients with SP-C disorder. METHODS: Sequencing analysis of SFTPC in 291 candidates with HILD was performed. The phenotype and genotype correlated with poor outcomes were examined. The log-rank test was used to compare the probability of good outcomes between two patient groups. RESULTS: Twenty patients were diagnosed with SP-C disorder. Of nine patients with neonatal-onset disease, four and five presented with pulmonary alveolar proteinosis (PAP) and interstitial pneumonitis (IP), respectively. The remaining 11 patients with late-onset disease had IP. In total, four and 16 patients had PAP and IP phenotypes, respectively. Four of nine patients with neonatal-onset disease died, and one survived after lung transplant. Further, 1 of 11 patients with late-onset disease died. Four patients with neonatal-onset PAP had a significantly lower probability of good outcomes than the remaining patients. Two patients with neonatal-onset PAP had the p.Leu45Arg variant, one died and the another survived after lung transplant. Of eight patients with variants in the BRICHOS domain, one with frame shift variant located in exon 4, one with variant located at the splicing acceptor site of exon 4, and one with variant located at the splicing donor site of exon 4 died. CONCLUSION: Neonatal-onset PAP was a phenotype predicting poor outcomes in patients with SP-C disorder. The p.Leu45Arg variant and splicing disorder of exon 4 might be genotypes predicting poor outcomes in patients with SP-C disorder.
Assuntos
Doenças Pulmonares Intersticiais , Proteinose Alveolar Pulmonar , Recém-Nascido , Humanos , Proteinose Alveolar Pulmonar/genética , Proteinose Alveolar Pulmonar/diagnóstico , Doenças Pulmonares Intersticiais/diagnóstico , Fenótipo , Genótipo , TensoativosAssuntos
Doenças Pulmonares Intersticiais , Síndrome do Desconforto Respiratório do Recém-Nascido , Lactente , Humanos , Recém-Nascido , Relevância Clínica , Pulmão/diagnóstico por imagem , Pulmão/metabolismo , Doenças Pulmonares Intersticiais/genética , Mutação , Síndrome do Desconforto Respiratório do Recém-Nascido/metabolismo , Transportadores de Cassetes de Ligação de ATP/genética , Transportadores de Cassetes de Ligação de ATP/metabolismoRESUMO
Spin qubits in silicon quantum dots offer a promising platform for a quantum computer as they have a long coherence time and scalability. The charge sensing technique plays an essential role in reading out the spin qubit as well as tuning the device parameters, and therefore, its performance in terms of measurement bandwidth and sensitivity is an important factor in spin qubit experiments. Here we demonstrate fast and sensitive charge sensing by radio frequency reflectometry of an undoped, accumulation-mode Si/SiGe double quantum dot. We show that the large parasitic capacitance in typical accumulation-mode gate geometries impedes reflectometry measurements. We present a gate geometry that significantly reduces the parasitic capacitance and enables fast single-shot readout. The technique allows us to distinguish between the singly- and doubly occupied two-electron states under the Pauli spin blockade condition in an integration time of 0.8 µs, the shortest value ever reported in silicon, by the signal-to-noise ratio of 6. These results provide a guideline for designing silicon spin qubit devices suitable for the fast and high-fidelity readout.
RESUMO
[Purpose] The purpose of this study was to clarify the effects of passive exercise of the lower limbs and trunk (PELT) in ICU patients after cardiovascular surgery with decreased bowel motility. [Subjects and Methods] Ten ICU patients with clinically-apparent decreased bowel motility during the period of April to July 2016 were enrolled this study. Bowel sounds (BS) for 5 minutes at rest and 5 minutes after PELT were recorded through an electronic stethoscope. A frequency analysis was performed and the BS before and after PELT were compared. In addition, the percent change in BS before and after PELT was determined, and the relationship between the percent change in BS and individual parameters (invasiveness of surgery, inflammation, nutrition, renal function) was examined. [Results] Average BS (integral value) for 5 minutes before and after PELT were 63.1 ± 41.3â mVsec and 115.0 ± 57.8â mVsec, respectively; therefore, BS was significantly increased by PELT. When compared to patients at rest, a significant increase was found 0-4 minutes after PELT. None of the individual parameters was significantly correlated with the percent change. [Conclusion] PELT can increase the bowel motility of ICU patients with decreased bowel motility.