Medicine
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Molecular mechanism underlying the autosomal recessive non-syndromic hearing loss (ARNSHL) is still plausible. Pathogenic mutations of the gap junction beta 2 protein (GJB2) are reported to be the primary causes of ARNSHL. ⋯ In this family, we discovered 2 heterozygous carriers of c.113T>C variation in the GJB2 gene. The propositus, who had profound hearing loss, had inherited the c.113T>C variation from his normal mother and the c.235delC from his father.
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Case Reports
Acute diffuse edematous-hemorrhagic Epstein-Barr virus meningoencephalitis: A case report.
In this study, we presented a rare case of Epstein-Barr virus (EBV) meningoencephalitis presented with meningoencephalitis-like symptoms and diffuse edematous hemorrhage. ⋯ The patient is an adult, and imaging was dominated by intracranial diffuse microhemorrhage and edema, which was different from the typical imaging characteristics of EBV encephalitis as previously reported. This specific imaging change may provide new clinical value for the diagnosis of EBV encephalitis.
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Rapid response system (RRS) efficacy and national early warning score (NEWS) performances have largely been reported in inpatient settings, with few such reports undertaken in outpatient settings. This study aimed to investigate NEWS validity in predicting poor clinical outcomes among outpatients who had activated the RRS using single-parameter criteria. A single-center retrospective cohort studyFrom April 1, 2014 to November 30, 2017 in an urban 350-bed referral hospital in JapanWe collected patient characteristics such as activation triggers, interventions, arrival times, dispositions, final diagnoses, and patient outcomes. ⋯ The difference in the NEWS at the time of deterioration and at disposition was significantly less in patients with poor clinical outcomes (median 3 vs 1.5, P = .03). The area under the curve (AUC) for the NEWS high-risk patient group at the time of deterioration for predicting hospital admission was 0.85 (95% confidence interval [CI], 0.67-1.0), while the AUC for the NEWS high-risk patient group at disposition for predicting poor clinical outcomes was 0.83 (95% CI, 0.62-1.0). The difference between the NEWS at the time of deterioration and at disposition might usefully predict admissions and poor clinical outcomes in RRS outpatient settings.
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This study assessed sex differences in cardiac and motor functions, quality of life (QoL), and mental status in Chinese chronic heart failure (CHF) patients after metoprolol treatment. This single-center prospective study, conducted from February 2013 to April 2016, included CHF patients (men and women) with resting heart rate (HR) >80 beats/min using metoprolol continuous release tablets. Metoprolol-induced changes in cardiac and motor functions, QoL, and mental status at 1, 3, 6, 9, and 12 months from baseline, within and between the sexes, were analyzed. ⋯ Copenhagen Burnout Inventory score significantly increased in men (mean score 62.43, P < .05). Metoprolol treatment improves cardiac and motor functions, QoL, and anxiety scores but causes greater depression and burnout in men and women. Sex was seen to affect mental status of CHF patients the most.
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To investigate the difference in messenger ribonucleic acid (mRNA) and protein expression of growth arrest DNA damage-inducible gene 45α (GADD45α), mouse double minute 2 homolog (MDM2), and P73 in cancer and cancer-adjacent tissues in patients with non-small-cell lung carcinoma (NSCLC). We compared the mRNA expression of GADD45α and MDM2 and the protein expression of GADD45α, MDM2, and P73 in lung cancer and cancer-adjacent tissues in NSCLC patients by quantitative real-time PCR, immunohistochemistry (IHC), and Western Blot (WB). We analyzed GADD45α, MDM2, and P73 expression in patients with different pathological types of NSCLC, and the correlation of these genes with gender, smoking history, and TNM/T stages. ⋯ In addition, WB results indicated that P73 protein expression significantly decreased in cancer tissues in patients with adenocarcinoma (P = .03), but not squamous carcinoma. MDM2 and P73 protein levels were differentially regulated in cancer and cancer-adjacient tissues in patients with sub types of NSCLC. There was no significant difference in GADD45α expression between cancer and cancer-adjacent tissues in NSCLC patients.