Introduction: Glycogen storage disease (GSD) type IX, characterized by liver enlargement and elevated aminotransferase levels, is the most frequent type of GSD. The global incidence of GSD type IXa is only about 1/100,000 individuals. Case reports of GSD type IX are rare in China. We present the first case report of GSD type IXa in Northeast China caused by mutation of PHKA2. Patient concerns: An 11-year-old boy was referred to our hospital because of liver enlargement with consistently elevated transaminase levels over 6 months. Diagnosis: Histopathological results following an ultrasound-guided liver biopsy confirmed a diagnosis of GSD. Further genetic testing showed that the patient had GSD type IXa caused by the c.133C>T mutation in PHAK2. Interventions: We placed the patient on a high-protein and high-starch diet and provided hepatoprotective and supportive therapy. Outcomes: The patient's transaminase levels decreased significantly and were nearly normal at 10-month follow-up. Conclusion: This is the first reported case of GSD type IXa in Northeast China. We hope that the detailed and complete report of this case will provide a reference for the diagnosis of liver enlargement of unknown etiology in future clinical practice.
Helicobacter pylori infections have been one of the major factors associated with gastroduodenal ulcer. Toll-like receptors (TLRs) of human recognize mycobacterium-induced immune response and protect subjects from disease pathogenesis. Variants in TLR genes are believed to influence immune responses to H. pylori and clinical severity. TLR-9 polymorphisms have been associated with susceptibility to gastroduodenal ulcer in different populations. In this study, we investigate the role of common TLR-9 variants in susceptibility/resistance to the development of gastroduodenal ulcer in a Chinese cohort. The present hospital-based case-control study enrolled 580 patients with abdominal discomfort, and based on endoscopic investigation, the patients were categorized into (1) gastric ulcer (n = 154), (2) duodenal ulcer (n = 70), (3) gastric and duodenal ulcers (n = 25), (4) gastritis (n = 195), and (5) healthy stomach (n = 136). A total of 520 healthy controls from similar geographical areas were enrolled as controls. TLR-9 (C-1237T, C-1486T, and G+2848A) polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Plasma levels of tumor necrosis factor (TNF)-α, interleukin (IL)-6, and IL-1β in both healthy controls and patients were quantified by enzyme-linked immunosorbent assay (ELISA). Furthermore, messenger RNA (mRNA) expressions of TNFα, IL-6, and IL-1β in biopsy tissues were quantified by real-time polymerase chain reaction (RT-PCR). The prevalence of TLR-9+2848 heterozygotes (CT) was significantly higher in gastroduodenal ulcer patients compared to healthy controls. Sub-categorization of patients revealed higher prevalence of heterozygotes of TLR-9 C+2848T and C-1486T polymorphisms in patients with gastric ulcer (GU), duodenal ulcer (DU), and those with both gastric and duodenal ulcers (GDU) when compared to controls. Patients displayed higher plasma cytokine levels than healthy controls. TLR-9 polymorphisms (C+2848T and C-1486T) correlated with altered cytokine expression in biopsy tissues and their plasma levels. In conclusion, TLR-9 (C+2848T and C-1486T) polymorphisms are associated with gastroduodenal ulcer and correlated with altered cytokine levels.
Aiming at the problem of pulverized migration and plugging propped fractures during coal seam fracturing, we experimentally studied the pressure changes and pulverized coal blocking characteristics with deionized water and solutions of three surfactants including 1227 (C21H38ClN), SDS (C12H25SO4Na) and TX-100 (C34H62O11). A device capable of visualizing propped fractures was established, and simulation experiments were conducted with solutions of different surfactants at different injection flow rates. The obtained images were binarized and analyzed to quantify the pulverized coal blockage degrees of facture under different conditions. The experimental results show that: (1) The higher the injection flow rate, the higher the inlet pressure. (2) All three surfactants can lower the injection pressure, as compared with water alone. SDS decreases the injection pressure more obviously at low injection flow rates, and the other two perform better at high injection flow rates. (3) Similar to their effects on inlet pressure, the ratio of pulverized coal in SDS solution is lower at low injection flow rates, while TX-100 and 1227 solutions show lower ratios of pulverized coal at high injection flow rates. Our work has provided a theoretical support for coal blockage removal and pressure reduction in propped fractures during coal seam fracturing to improve coal seam permeability and further improves the dust prevention effect of coal seam water injection.
Background:Acquired immune thrombotic thrombocytopenic purpura(TTP) is an autoimmune disorder that is characterized by microangiopathic hemolytic anemia and thrombocytopenia with associated organ dysfunction. Refractory TTP that fails to respond to standard therapeutic plasma exchange(TPE) and prednisone continues to be associated with high mortality. Although recent evidence had identified age, renal involvement, and cardiac involvement as predictors of high mortality, little information is available on clinical factors capable of predicting the treatment response that may be able to guide the initiation of early and targeted aggressive therapy.Aims:To identify the incidence and early indicators of refractory TTP and risk factors of exacerbation, relapse and mortality.Methods:The study population consisted of all patients with clinically suspected TTP from 14 large academic medical centers in China from January 2005 to January 2018. We excluded patients who were diagnosed congenital TTP or other thrombotic microangiopathies. Final diagnosis of acquired immune TTP was confirmed by at least one senior hematologist. Data(demographic, clinical, laboratory and treatment information) obtained at diagnosis and prior to treatment were collected from electronic medical records. Stepwise regression was used to identify independent risk factors.Results:Among 261 patients referred to the 14 medical centers, 126 patients satisfied the inclusion criteria and were included in the analysis. Overall, 41/126 patients were regarded as having refractory TTP. Compared with those of the responsive group, the patients in the refractory group were older and had higher d‐dimer, C‐reactive protein(CRP) and serum creatinine levels and more acute kidney insufficiency. The ADAMTS13 levels were comparable between the two groups. In multivariate logistic analysis, we identified albumin<35 g/L(OR 3.939, 95% CI 1.050–14.782; p = 0.042) and CRP < 15 mg/L(OR 0.280, 95% CI 0.085–0.928, p = 0.037) as independent predictors of refractory TTP. All patients underwent a median of 5 TPE sessions, and corticosteroids were given to most of the patients. When combined with first‐line treatments, alternative treatments, such as intravenous immunoglobulin, rituximab, cyclosporine A and vincristine, each showed better outcomes, although the differences were not statistically significant. With a median follow‐up time of 1131 days, the 1‐year overall survival(OS) and progression‐free survival of all TTP patients were 74.1% and 60.3%, respectively. Refractory and responsive TTP had significantly different outcomes(p < 0.001). In the multivariate analysis, an older age(OR 1.082, 95% CI 1.017–1.151, p = 0.013), proteinuria(OR 13.628, 95% CI 1.406–132.072, p = 0.024) and increased indirect bilirubin(OR 1.067, 95% CI 1.022–1.114, p = 0.03) were independent risk factors of exacerbation/relapse, but exacerbation/relapse had no influence on OS(p = 0.566). Cox regression indicated that two factors were significantly associated with OS: age>45 years(HR 14.127, 95% CI 1.404–142.136, p = 0.025) and acute kidney insufficiency(HR 9.100, 95% CI 1.838–45.052, p = 0.007).Summary/Conclusion:This novel observation showed that 32.5% of TTP cases were refractory and that serum albumin and elevated CRP might be early predictors of these cases. These factors may have the potential to guide intensification of therapy and improve survival outcomes, which should be reevaluated in larger prospective studies.
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