Medicine
-
Case Reports
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
Holocarboxylase synthetase (HCLS) deficiency, especially the late-onset type, is a rare disease. Affected patients can present with irreversible metabolic acidosis and may be misdiagnosed with a glucose metabolic disorder. Prompt and correct diagnosis and treatment can reduce mortality to a great extent. ⋯ Late-onset HCLS deficiency may present with obvious hyperglycemia. Human genetic analysis eventually provided a definite diagnosis. Prompt treatment with biotin is vital to correct metabolic imbalances, and continued therapy is essential to the improving long-term prognoses. Their mutations were p.R508W and c.1088T > A, and these mutations might represent hot-spot genes in Chinese populations with HCLS deficiency. The variants c.1484T > G(p.L495*) and c.835G > T(p.E279x) are likely pathogenic, and more studies are needed to confirm these results.
-
Comparative Study
Gap balancing versus measured resection in primary total knee arthroplasty: A retrospective cohort study protocol.
Recently, controversy still exists regarding the clinical effects of measured resection or gap-balancing technique in total knee arthroplasty (TKA). The objective of this retrospective study was to compare the clinical outcomes of conventional measured resection technique and computer-assisted gap-balancing technique in TKA. ⋯ We were able to directly compare the outcomes of measured resection versus gap-balancing techniques and might reveal a better technique in TKA.
-
Case Reports
Membranous nephropathy and thymoma in a patient with ankylosing spondylitis: A case report.
We report a rare case with ankylosing spondylitis (AS), thymoma, and membranous glomerulonephritis. The pathogenic mechanisms of these 3 diseases may be associated with each other. Here, we discuss the course of diagnosis and treatment. ⋯ Although the causal relationship between AS, thymoma, and membranous nephropathy in this patient still needs to be established, the pathogenesis between the 3 diseases may have some association. In clinical practice, patients with AS need to be screened for tumors and renal complications.
-
It is increasingly recognized that modulation of brain inflammation may uncover new potential therapeutic strategies for stroke. Recent studies have shifted focus from immunological implications in ischemic stroke to a more devastating form; the hemorrhagic stroke. The aim of this study was to investigate the neuroinflammatory response in cerebrospinal fluid in patients with primary intracerebral hemorrhage (ICH) associated with intraventricular hemorrhage (IVH) in the presence of low-dose recombinant tissue plasminogen activator (rt-PA). ⋯ There was a significant difference in interleukin-1 beta concentration between days 0 and 1 in comparison to day 3 in the rt-PA group, and between day 0 in comparison to day 3 and 7 in the non-rt-PA group. We also observed a significant difference in transforming growth factor beta concentration between days 0 and 1 and between days 3 and 7. The different pattern of pro- and anti-inflammatory cytokines in patients with ICH associated with IVH suggest distinct characteristics of secondary brain injury depending on the treatment modality.
-
Healthcare workers (HCWs) were at the frontline during the battle against coronavirus. Understanding and managing their fears and anxieties may hold lessons for handling future outbreaks. However, the experiences and perceptions risk of HCWs from coronavirus still remains to be controversial. Thus, the objective of this review is to identify, appraise, and synthesize available evidence related to the experiences and perceptions of risk of HCWs from coronavirus. ⋯ CRD42020170388.