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Aim: FOXP2 was described as the first gene relevant to human speech and language disorders. The main objective of this study was to compare the distribution of FOXP2 gene polymorphisms between patients with speech sound disorder and healthy controls. Methods: Five FOXP2 polymorphisms, rs923875, rs2396722, rs1852469, rs17137124 and rs1456031, were analyzed in 150 patients with speech sound disorder according to DSM‐IV, as well as in 140 healthy controls. Coding exons for key domains of FOXP2 were also sequenced in all the patients. Results: Significant differences in the genotype (P = 0.001) and allele (P = 0.0025) frequencies of rs1852469 (located 5′ upstream of the ATG initiator codon) were found between patients and controls. The excess of the T allele in the patients group remained significant after Bonferroni correction (P = 0.0126). Further investigations revealed a risk haplotype: rs2396722T/+rs1852469T. Our screening of key domains did not detect any point mutations in this sample. But we detected heterozygous triplet deletion of the glutamine‐encoding region of exon 5 that alter FOXP2 protein sequence in five probands. These changes are predicted to yield a polyglutamine tract reduction from 40 to 39 consecutive glutamines. Conclusions: Our data support a possible role of FOXP2 in the vulnerability to speech sound disorder, which adds further evidence to implicate this gene in speech and language functions.  相似文献   
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Background/purpose

In 2017, the World Health Organization categorized carbapenem-resistant Acinetobacter baumannii (CRAB) as a priority 1, critical antibiotic-resistant bacteria. This study analyzed the clinical outcomes and investigated the molecular epidemiology of CRAB bacteremia in a medical center in Northern Taiwan.

Methods

We collected 62 blood isolates from patients with CRAB bacteremia from January 2014 to December 2015 at MacKay Memorial Hospital and determined the clonal relationship using the PCR-based technique for molecular epidemiology. Medical charts were reviewed for clinical outcomes.

Results

Fifty-six isolates harbored the blaOXA-51-like and blaOXA-23-like carbapenemase genes, 4 isolates harbor the blaOXA-51-like and blaOXA-24-like carbapenemase genes and 2 isolates harbored only the blaOXA-51-like gene. After sequencing, all four isolates of blaOXA-24-like carbapenemase gene were confirmed to be isolates of blaOXA-72 carbapenemase genes. In multivariate analysis in the 60 patients, the independent mortality risk factors of CRAB bacteremia included ≥65 years (elderly) (Odds ratio, 4.04, 95% CI, 1.10–14.83, p = 0.035), chronic kidney disease (4.36, 1.14–16.72, p = 0.032). Isolates harboring the blaOXA-72 gene had the same sequence type (ST218) and PFGE pulsotype raising the possibility of intra-hospital transmission, and all infected patients died.

Conclusion

This study showed the clonal relationship of isolates harboring the carbapenemase gene in CRAB bacteremia. Patients with the ST218 strain harboring blaOXA-72 gene had high mortality. This warrants further research to determine the mechanism of virulence and risk factors in order to reduce mortality.  相似文献   
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In the management of congenital clubfoot, recent attention has been given to the deformity of the calcaneocuboid joint in addition to the changes in the talonavicular, talocalcaneal and ankle joints. Fifty-five patients with 86 clubfeet operated on in the past six years were retrospectively studied. Radiographically, the calcaneocuboid subluxations were graded from I to IV by the Thoemtz classification. The grading has some correlation with the gross deformity, although there is no statistical data to confirm it. Postoperatively, those with grade I feet seemed to have satisfactory results with a posterior release only or with a posteromedial release. Grade II-III feet generally required extensive posteromedial and lateral release. Those who had a calcaneocuboid release and reduction obtained better correction than those who did not. We conclude that calcaneocuboid subluxation should be appraised preoperatively and reduced during surgery in order to achieve good results.  相似文献   
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