Recently, there have been a number of studies on the association between cyclin D1 G870A polymorphism and nasopharyngeal carcinoma risk. However, the results of previous reports remain controversial and ambiguous. Thus, we performed a meta‐analysis to explore more precisely the association between cyclin D1 G870A polymorphism and the risk of nasopharyngeal carcinoma. No significant association was found between cyclin D1 G870A polymorphism and nasopharyngeal carcinoma risk in total population analysis. In the subgroup meta‐analysis by ethnicity, a negative association was shown in Caucasian subgroup, and no significant association in any genetic models among Asians was observed. In summary, positive results have been shown on the search for polymorphic variants influencing the risk of NPC. This meta‐analysis provides evidence of the association between CCND1 G870A polymorphism and NPC risk, supporting the hypothesis that CCND1 870A allele probably acts as an important NPC protective factor in Caucasians but not in Asians. Since the results of our meta‐analysis are preliminary and may be biased by the relatively small number of subjects, they still need to be validated by well‐designed studies using larger samples in the future.
To evaluate the accuracy of home self-monitoring portable blood glucose meters, we analyzed the current problems of patients using portable blood glucose meters and put forward reasonable suggestions. A self-designed questionnaire was used to survey 142 patients and 132 healthcare professionals. The questionnaire consisted of 16 items with an overall score ranging from 1 to 13 (with a higher score indicating better experience). The study included adult patients with diabetes mellitus type 1 or type 2. The patients’ awareness rate for standardized use of portable blood glucose meters at home was at 31.42%. Specifically, awareness of blood collection specifications was at 15.85%, standardized operation at 42.53%, and accuracy of results at 0%. A significant majority (81.69%) scored between 0 and 5 points in home blood glucose meter use, with knowledge and practice scores consistently below 3 points. Notably, no patients conducted a formal comparison of various meters. Despite this, their confidence level in the portable blood glucose meter results was as high as 71.1%. Urgent measures are needed to educate patients on proper usage and encourage regular instrument comparisons.
Rationale: Gitelman syndrome (GS) is a rare hereditary electrolyte disorder caused by mutations in the SLC12A3 gene. There is limited literature on the role of hydrochlorothiazide (HCT) testing and the SLC12A3 single heterozygous mutation in the diagnosis and management of patients with GS. In addition, cases of GS with concomitant kidney stones are rare. Patient concerns: A 48-year-old male patient suffered from unexplained hypokalemia for >10 years. Diagnoses: The patient was diagnosed with GS, type 2 diabetes mellitus, and kidney stones. Interventions: He was given potassium chloride sustained-release tablets and potassium magnesium aspartate tablets. Outcomes: His irregular potassium supplementation and hypoglycemic therapy resulted in poor control of potassium and blood glucose levels. Lessons: When unexplained hypokalemia is observed, the HCT test can help with the diagnosis of GS. When genetic testing reveals that a patient only carries only 1 SLC12A3 mutant allele, he requires further genetic evaluation. The patient’s combination of kidney stones and cysts could not exclude the diagnosis of GS. Patients with GS and diabetes should be monitored for the development of diabetic ketoacidosis.
Introduction: Carbapenem-resistant Acinetobacter baumannii (CRAB) poses a global health threat due to limited therapeutic options. Cefiderocol, a novel siderophore-conjugated cephalosporin, demonstrates potent in vitro activity against a variety of Gram-negative bacteria, including CRAB. However, cefiderocol's recent introduction into clinical practice means that while several resistance mechanisms have been identified, their full characterization remains incomplete, and novel mechanisms are likely to emerge as clinical use expands. Methods: In this study, in vitro evolution experiments were performed under cefiderocol pressure using a clinical CRAB isolate as the parental strain to investigate cefiderocol resistance mechanisms. Results: Genomic comparison and mutant reconstruction revealed that mutations in pbp1b (G271R) and the intergenic region upstream of piuA (-6_-8del) conferred a 4-fold increase in cefiderocol MIC. In silico predictions and EMSA confirmed that the intergenic mutation occurred within the piuA promoter region. qRT-PCR analysis indicated that the piuA promoter mutation significantly reduced piuA expression. This downregulation of piuA expression impaired cefiderocol transport, leading to reduced susceptibility to cefiderocol. A search across publicly deposited genome sequences identified ten piuA promoter mutations in A. baumannii . Among these, the−-6_-8del was the most commonly observed variant, which was primarily associated with ST2 Pas /ST457 Oxf , ST2 Pas /ST208 Oxf , and ST499 Pas . Functional characterization of the−-6_-8del variant and three additional promoter mutations (-18del, A-17T&-18del, A-17T&-14del) confirmed suppression of piuA expression and reduction of cefiderocol susceptibility. Discussion: Combining in vitro evolution with publicly available A. baumannii genome sequences, this study demonstrates promoter-mediated piuA downregulation as a cefiderocol resistance mechanism in A. baumannii , providing a genomic target for predicting cefiderocol resistance.