Medicine
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Rare variants, in particular renal salt handling genes, contribute to monogenic forms of hypertension and hypotension syndromes with electrolyte abnormalities. A study by Ji et al (2008) demonstrated this effect for rare loss-of-function coding variants in SLC12A3 (NCCT), SLC12A1 (NKCC2), and KCNJ1 (ROMK) that led to reduction of ∼6 mm Hg for SBP and ∼3 mm Hg for DBP among carriers in 2492 European ancestry Framingham Heart Study (FHS) subjects. These findings support a potentially large role for these variants in interindividual variation in systolic and diastolic blood pressure (SBP, DBP) in the population. ⋯ We attempted to replicate the findings by Ji et al by applying their criteria to identify putative loss-of-function variants with allele frequency <0.001 and complete conservation across a set of orthologs, to exome sequencing data from 7444 European ancestry participants of the ARIC study. Although we failed to replicate the previous findings when applying their methods to the ARIC study data, we observed a similar effect when we restricted analyses to the subset of variants they observed. These results simultaneously support the utility of exome sequencing data for studying extremely rare coding variants in hypertension and underscore the need for improved filtering methods for identifying functional variants in human sequences.
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This study aimed to determine the role of plasma miR-17-92 cluster level in predicting chemoresistance in patients with gastric cancer (GC) undergoing oxaliplatin/capecitabine (XELOX) chemotherapy. Patients recently diagnosed with advanced GC were chosen as participants based on the inclusion criteria. The plasma levels of miR-17-5p, miR-18a, miR-19a/b, miR-20a, and miR-92-1 (miR-17-92 cluster) were determined through quantitative RT-PCR of blood samples from GC patients and healthy volunteers. ⋯ The miR-17-92 cluster plasma level was decreased in chemosensitive patients, but not in chemoresistant patients, after chemotherapy. The sensitivity and specificity of the combined detection of the miR-17-92 cluster in patients with advanced GC were 100% each. The results suggest that the miR-17-92 plasma level is associated with the progression of advanced GC and effectiveness of XELOX chemotherapy.
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Clinical Trial Observational Study
Epidemiology of lower urinary tract symptoms in a cross-sectional, population-based study: The status in China.
Lower urinary tract symptoms (LUTS) are reported to affect over half of all adults, and they are associated with significantly impaired quality of life (QOL). We performed a population-based study to evaluate the overall prevalence and impact of LUTS including overactive bladder (OAB) in adults aged ≥40 years in China. Adults aged ≥40 years were eligible to participate in this internet-based survey, provided that they had the ability to access the internet, to use a computer and to read the local language. ⋯ LUTS are associated with impaired QOL and mental health, but fewer than half of individuals in China with LUTS seek healthcare for their symptoms. There is therefore a need to improve awareness and treatment of the condition. ClinicalTrials.gov identifier: NCT02618421.
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To describe the characteristics of patients visiting a Hospital Emergency Department (HED) due to chronic obstructive pulmonary disease (COPD) exacerbation (AECOPD) and to evaluate their management. A cross-sectional study of the first 219 patients with AECOPD visiting the HED of the University Hospital Arnau de Vilanova, Lleida, Spain, was performed from January to May 2016. The data collected included the following: main patient characteristics, diagnostic tests, applied treatments, response times, discharge destination, need for hospital admission, and re-admissions and deaths at 90 days. ⋯ Overall, the following areas of improvement were identified: use of sputum culture (performed in 3% of patients); documentation of variables; patient care times; and reduction in the time until first medical check-up. The overall quality of care provided to AECOPD patients was satisfactory and consistent with current clinical guidelines. Nevertheless, improving the quality of care at the HED requires establishing protocols that ensure that the necessary diagnostic tests are performed, optimize response times and guarantee that all relevant information is collected.
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Observational Study
Bacteriuria and asymptomatic infection in chronic patients with indwelling urinary catheter: The incidence of ESBL bacteria.
Urinary tract infections due to the presence of a urinary catheter represent a real problem for patients who have to carry such an invasive device for a long time. Our aim was to identify the susceptibility of extended spectrum beta lactamases (ESBL) versus non-ESBL bacteria to antibiotics in urinary tract infections in patients who are chronic carriers of urinary catheters. The retrospective study included a period of 5 years, a total of 405 patients who are chronic carriers of urinary catheters, admitted to rehabilitation and palliative care units. ⋯ In cases of ESBL-positive P mirabilis, rates ranged from 13.3% (cefepime) to 90.3% (ceftriaxone), whereas in cases of ESBL-negative P mirabilis, rates ranged between 8.3% (cefepime) and 80.0% (trimetroprim). Bacteriuria and asymptomatic catheter infection in chronic carriers is an important public health concern due to the frequent presence of multidrug-resistant bacteria. Our study highlights the need to develop control programs of catheter infections to minimize the risk of infections associated with these medical devices, and also the need for treatment of the infection rather than catheter colonization or contamination.