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1.
Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia
《Journal of cystic fibrosis》2022,21(4):603-605
CFTR mutation carriers, numbering 1 in 25 among Caucasians, have an increased risk of developing chronic pancreatitis due to the underlying dysfunction of ion channels created by the mutant allele. Carriers do not frequently manifest disease due to the remaining wild-type CFTR protein sufficiently maintaining normal pancreatic homeostasis. However, additional risk factors for pancreatitis, such as organic acidemias (as seen in our patient) that further impact function of pancreatic acinar cells can result in the precipitation of CFTR related pancreatitis. Here we report a CFTR carrier with methylmalonic acidemia who was treated with ivacaftor and subsequently experienced resolution of her chronic pancreatitis. Our report suggests that ivacaftor may rescue the function of mutant CFTR in carriers and treat pancreatitis caused by CFTR dysfunction in situations where there are additional precipitating factors. 相似文献
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目的分析超声引导下经皮肺穿刺活检术术后并发症的相关影响因素。 方法收集2015年1月至2017年12月于西部战区总医院住院并在超声引导下行经皮肺穿刺活检术的205例患者临床资料,分析205例患者穿刺术后病理结果及并发症发生率,探讨超声引导下经皮肺穿刺活检术术后并发症的相关影响因素。 结果205例患者行超声引导下经皮肺穿刺活检术,术后并发出血8例,占3.9%(8/205),术后发热3例,占1.46% (3/205),为低热,且予以对症治疗后均恢复正常,无严重并发症发生。术后出血的发生率在不同性别、年龄、BMI及病灶类型的患者中无显著差异(P>0.05),且吸烟对患者术后出血率也无显著影响(P>0.05);但有基础疾病的患者其术后出血率更高(P=0.005),且病灶直径越小,术后越容易并发出血(P=0.006)。不同性别、年龄及病灶类型对术后发热的发生率无显著影响(P>0.05),且术后发热与吸烟史及基础疾病史无关(P>0.05),但BMI≥24或3 cm ≤病灶直径(d)<6 cm的患者术后更易发热(P<0.05)。 结论超声引导下经皮肺穿刺活检术术后并发症发生率低(约为5.37%),主要为出血及低热,其中术后出血主要与基础疾病史和病灶直径有关,术后发热主要与病灶直径及BMI有关。 相似文献
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《Indian journal of medical microbiology》2022,40(4):516-520
PurposeThe spread of infections caused by Enterobacterales strains resistant to carbapenems is a global public health problem, and early detection of carbapenemases is very important to prevent their spread. The rapid detection of carbapenemase production with the new commercial assay Rapidec® Carba NP test is based on the biochemical detection of imipenem hydrolysis. Our study aims to evaluate the performance of the Rapidec® Carba NP test in OXA-48 positive isolates highly prevalent in our country and also in isolates with more than one carbapenemase gene that have an increased prevalence and to examine whether it can be used for confirmation of carbapenemase positivity in the routine laboratory.MethodsA total of 97 strains of 94 carbapenem-resistant Klebsiella pneumoniae and three carbapenem-resistant Escherichia coli isolated from various clinical specimens were included in the study. The results of the Rapidec® Carba NP assay were compared with those obtained by the multiplex PCR test.ResultsThe sensitivity of the Rapidec® Carba NP test was 97.8% for all carbapenemase-positive isolates. Of 90 PCR positive isolates, one OXA-48 and one OXA-48 ?+ ?NDM positive isolates were negative with Rapidec® Carba NP test.ConclusionsThe positive results detected by the Rapidec® Carba NP test make an important contribution to the early detection of carbapenemase production and infection control practices. Since two carbapenemase positive isolates were found to be negative with the Rapidec® Carba NP test in our study, it was concluded that negative results of carbapenem-resistant isolates obtained with this assay should be confirmed with an additional carbapenemase detection method to exclude false-negative results. 相似文献
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《Research in microbiology》2022,173(3):103901
Infections caused by Klebsiella pneumoniae are often difficult to manage due to the high frequency of multidrug resistance, often conferred by efflux pumps. In this study, we analyzed sequence variations of the major RND family multidrug efflux pump AcrB from 387 assembled K. pneumoniae genomes. We confirm that AcrB is a highly-conserved efflux pump in K. pneumoniae, and identified several variants that were prevalent in clinical isolates. Molecular dynamics analyses on two of these variants (L118M and S966A) suggested conformational changes that may correlate with increased drug efflux capabilities. The L118M change resulted in enhanced protein rigidity while the flexibility of drug binding pockets was stable or increased, and the interactions between the proximal pockets and water molecules were stronger. For S966A, the significantly enlarged proximal pocket suggested higher drug accommodation ability. Consistent with these predictions, the L118M and S966A variants conferred a slightly increased ability to grow in the presence of tetracycline and to survive cefoxitin exposure when overexpressed. In summary, our results suggest that the emergence of enhanced-function AcrB variants may be a potential risk for increased antibiotic resistance in clinical K. pneumoniae isolates. 相似文献
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《Auris, nasus, larynx》2022,49(6):1060-1066
This is a unique presentation of an acute vestibular syndrome (AVS) caused by vestibular neuronitis (VN) of a vestibular nerve (CNVIII) already affected by vestibular schwannoma (VS).A 48-year-old patient, formerly diagnosed with an intracanalicular VS, presented with AVS.The patient underwent clinical and neurotological examination including video Head Impulse Test and a 4-hour delayed-enhanced 3D-FLAIR MRI using intravenous gadolinium.Clinical and neurotological findings were consistent with VN of the CNVIII formerly diagnosed with VS. A 4-hour delayed-enhanced 3D-FLAIR MRI showed significant enhancement of the labyrinth also indicating VN of the same nerve affected by VS.Pragmatic corticosteroid therapy and vestibular exercises were applied resulting in satisfactory recovery of the patient.As vestibular symptoms are common in VS patients, investigating another cause of dizziness and vertigo in VS patients can be marginalized. Nevertheless, VS presenting as AVS is very unusual.VN should not be overlooked as a possible cause of acute vertigo in a patient previously diagnosed with VS. 相似文献
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《Indian journal of medical microbiology》2022,40(4):593-595
The performance of enzyme linked immunosorbent assays (EAST) for identifying six indoor allergens was evaluated using skin prick test (SPT) as reference tests in 154 children with allergic rhinitis. Sensitivity of EAST ranged from 9% (cat) to 54% (HDM) with specificity of 74%(cockroach) to 100% (cat) with an agreement ranged from 58 to 86%. Cut off values ?> ?0.35 kU/L showed best sensitivity and specificity. Our findings agree with extant literature which suggests that the ability of EAST to determine the precipitating allergen is moderate. Assays for definitively identifying the inhalant allergen are currently not available. 相似文献
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BackgroundSinonasal mucosal melanoma (SNMM) is a rare tumour with a poor prognosis. The purpose of this study was to identify independent predictors of outcome in SNMM and to examine the expression of PD-L1 and the relationship between expression and clinicopathological characteristics.MethodsA total of 117 patients with SNMM were reviewed in the Department of Pathology of Beijing Tongren Hospital (115 cases) and Beijing Chuiyangliu Hospital (2 cases) from June 2007 to June 2018. We evaluated the expression of PD-L1 in SNMM and investigated whether there was an association between the expression of the marker and clinicopathological characteristics.ResultsSex, age, side, location, size, histological type, melanin particles, nuclear fission and tumour infiltrating lymphocytes (TILs) were not significantly related to survival. The median survival times at the T3, T4a, and T4b stages were 23, 19, and 6 months, respectively. The difference between overall survival (OS) and AJCC stages was statistically significant. The tumour cells (TCs) were PD-L1 positive in 14/117 (12.0%) cases, and tumour-associated immune cells (ICs) were PD-L1 positive in 23/117 (19.7%) cases. A statistically significant correlation was observed between the positive expression rate of PD-L1 in ICs and TILs grading; however, there was no significant correlation between the positive expression rate of PD-L1 in TCs and TILs grading.ConclusionThe AJCC stages were the only independent predictors of survival. There was no correlation between the positive expression rate of PD-L1 and OS. A statistically significant correlation was observed between the positive expression rate of PD-L1 in ICs and TILs grading. 相似文献
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